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Contents

The Neuroprotective Benefits of Therapeutic Hypothermia in Pediatric Near-Drowning with Cardiac Arrest: A Case Report
Jamie Cohen, DO
Angela Kavenaugh, DO
Jennifer Davis, MD

_________

Trisomy 9: A Case Report of Neurological
Sequelae and Literature Review
Josi Herren, BS

_________

Obesity, Type Two Diabetes Mellitus, Asthma All
Present with Prader-Willi Syndrome: A Case Study
Kyle Hazlett
Carl R. Backes, DO, FACOP

_________

Osteogenesis Imperfecta: A Complicated Diagnosis
with Concerns for Misdiagnosed Physical Abuse
Kayla Crager
Carl R. Backes, DO

_________

The Neuroprotective Benefits of Therapeutic Hypothermia in Pediatric Near-Drowning with Cardiac Arrest: A Case Report

Jamie Cohen, DO, Pediatric Resident
Angela Kavenaugh, DO, Pediatric Resident
Jennifer Davis, MD, Pediatric Intensivist
Broward Health Medical Center
Chris Evert Children’s Hospital

Introduction
Drowning is the second leading cause of death in children and is associated with severe morbidity and mortality due to hypoxic-ischemic encephalopathy.(1)   For each drowning death, there are five non-fatal events, leaving the survivors with debilitating neurological deficits.(2) In drowning, every organ is affected. The most sensitive organ is the brain, and the disability is related to degree of hypoxia, termed hypoxic ischemic encephalopathy (HIE).(3) Therapeutic hypothermia has been proven in other populations to reduce morbidity related to the degree of HIE, but is not yet the standard of care in the pediatric population.

Background
HIE has two stages: Primary injury and Secondary injury. Primary injury is from hypoxia; lack of nutrients but preservation of blood flow. The person then suffers from ischemia due to cardiac arrest from the prolonged hypoxia. Since the brain cannot store nutrients, it switches to anaerobic metabolism. ATP is depleted in 2-3 minutes, resulting in lactic acidosis, metabolic derangements, electrolyte shifts, and cytotoxic edema. Secondary injury evolves over weeks, from accumulation of metabolites (lactate, free radicals, exitotoxic amino acids), and activation of inflammatory systems. The severity, duration, and timing determine the extent of disability.(4)

HIE can cause multisystem dysfunction, specifically involving the pulmonary, cardiovascular, renal, and gastrointestinal systems. From a pulmonary standpoint, surfactant wash-out results in respiratory distress syndrome (RDS). Increased capillary permeability causes intrapulmonary shunting with V/Q mismatch, atelectasis, and poor compliance. From a cardiovascular viewpoint, the anoxia damages muscle, creating global dysfunction and arrhythmias. Arrhythmias are worsened by metabolic derangements and electrolyte shifts. If hypoxia is prolonged, cardiac arrest ensues. From a renal point of view, rhabdomyolysis from extensive tissue destruction then leads to acute tubular necrosis (ATN) with varying degrees of oliguria and azotemia. Inappropriate ADH is common in the first 72 hours post-HIE, and the low osmolarity and hyponatremia increase cerebral edema and seizures. From a GI standpoint, luminal ischemia predisposes to necrotizing enterocolitis. Hepatocellular injury results in impaired synthetic function, resulting in hypoglycemia and coagulopathy, often to the extent of disseminated intravascular coagulation (DIC).(5)

Therapeutic hypothermia after resuscitation from ventricular fibrillation or pulseless ventricular tachycardia induced cardiac arrest is the standard of care in adults.(3) It has also been proven to have beneficial effects that persist into early childhood when utilized in neonatal birth asphyxia.(6)  Therapeutic hypothermia has yet to be accepted into practice for pediatrics.

In hypoxic ischemic encephalopathy, the degree of disability is related to duration of cardiac arrest and secondary damage post resuscitation. Hypoxia for a few minutes can cause neuronal death in primary injury. Additionally, CNS injury is temperature dependent. Fever worsens neurotransmitter and oxygen free radical production, the blood-brain barrier fails, depolarization in the ischemic penumbra is damaged, there is cytoskeletal proteolysis, and impaired recovery of energy metabolism. Therapeutic hypothermia minimizes the secondary injury via different mechanisms. Therapeutic hypothermia decreases metabolism, modulates intracellular signaling and gene expression.  These functions control the cascades of oxidative injury, inflammation, and apoptosis during ischemia and reperfusion, resulting in reduced number of neurons lost.

Case Presentation
A five year old previously healthy male presented to the emergency department (ED) after pool submersion of unknown duration. He was in a residential pool at a friend’s house for a celebration over Labor Day weekend.  The patient was found by a relative floating face down in the pool and had asphyxial cardiac arrest. He then proceeded to receive bystander CPR by a family member.   EMS arrived and continued CPR for a total of 10 minutes, including 2 doses of epinephrine. CPR continued into the emergency department. Upon arrival to the ED, he was found to have return of spontaneous circulation, with sinus tachycardia.

ER Course
Upon ED presentation, the patient was found to be unresponsive with a glasgow coma scale of 3, with fixed and dilated pupils, narrow complex tachycardia, 2+ femoral pulses, diffuse crackles and poor aeration. VS: 31° C, BP 105/66 Pulse 128 O2 100% (ambu bag), and no spontaneous respirations. He was intubated, with pink frothy material suctioned from the airways, two normal saline boluses of 340 ml each, and 2 mEq/kg of Sodium Bicarbonate. Initial CXR showed hazy lung fields suggesting pulmonary edema; Diffuse airspace infiltrate throughout both lungs and pulmonary hila were identified. Initial CT of head was normal. Labs upon presentation included:

PICU Course
In the PICU, the patient was found to have 3mm briskly reactive pupils, lungs with scattered ronchi and crackles at the bases, 1+ thready pulses, a nonspecific response to pain, and some spontaneous respirations. The patient was sedated, paralyzed, and therapeutic hypothermia was induced.  A four hour post intubation arterial blood gas was: 7.34/36/93/20/-6.

An initial EEG reading was diffusely depressed with a slow background. The initial echocardiogram showed grossly normal anatomy with global hypodyskinesia, more pronounced in the left ventricle.

The patient’s PICU course was complicated by rhabdomyolysis, hyperglycemia, aspiration pneumonia, ARDS, and cardiogenic shock.  All of these complications prolonged his mechanical ventilation, but were aggressively treated and resolved. His repeat echocardiogram was normal for age, and his EKG showed abnormal prolonged QT with low amplitude QRS. His post-EEG, when discontinued after 36 hours, was continuous and attenuated with improvement and showed sleep spindles without seizures.

On day 10, the patient was extubated with an arterial blood gas of 7.40/45/107/28/3. The patient’s extubation was prolonged by fluid overload and aspiration pneumonia, secondary from the near-drowning. Once extubated, the patient continued to improve, and his repeat chest x-ray was mostly cleared, with improvement in haziness. On day eleven of the patient’s PICU stay, his physical exam showed significant improvements, revealing PERRLA of the eyes (4mm), good bilateral air exchange with occasional rhonchi, a non-distended and non-tender abdomen with positive bowel sounds, and a cardiovascular exam exhibiting S1, S2 and 2+ peripheral pulses. The patient’s neurological exam revealed hypotonicity, and he was following commands well, but was non-verbal.

Inpatient Pediatrics Course
On day 17, the patient was downgraded to the pediatric inpatient floor. At this time he was following two-step commands, maintaining normal oral intake, and ambulating with mild deficits in functional ability. On day 18, the patient was eating well by mouth, maintaining swallowing function, tolerating a normal diet, ambulating with assistance, and speaking short sentences.  He was discharged to inpatient rehabilitation, with his only discharge medication consisting of Keppra for seizure prophylaxis, according to our HIE management.

Therapeutic Hypothermia Protocol
The hypothermia protocol consisted of the patient wrapped in a servo-controlled surface cooling system, continuous rectal temperature maintained between 32-34 °C, continuous EEG, and central arterial and venous pressure monitoring.  An NG tube was put to low intermittent suction, and a foley catheter was placed to monitor urine output.  After maintenance for 48 hours on therapeutic hypothermia, paralysis was removed, and the patient was rewarmed automatically by 0.2 degrees every 30 minutes to a final goal temperature of 36.5 Celsius.  A 24 hour video EEG was obtained once normothermia was established.

Labs drawn were due to physiologic changes observed under hypothermia at specific intervals illustrated by the adult studies.  The physiologic changes seen in the adult studies were noted to affect each organ system, and the timing of the lab draws were based on the adult protocol.(3) For the renal system, decreased creatinine clearance and central redistribution of volume can cause diuresis, dehydration, and electrolyte imbalances.   The gastrointestinal system can have increased dysfunction, requiring monitoring of liver function tests.  Coagulation may be disturbed by decreased enzyme activity, enhanced fibrinolysis, platelet dysfunction, and a diffuse DIC-like syndrome.  HIE is often complicated by diabetes insipidus and SIADH, which is why frequent urinalyses are performed.   

Labs obtained during the protocol consisted of:

• Hourly accuchecks
• BMP, Magnesium, Phosphorus, serum osmolality, and ABG every 6 hours
• CBC every 12 hours
• Daily coagulation studies, LFTs, UA, and urine osmolality

Discussion
Our patient presented with classic findings of severe drowning and HIE, exhibited by severe encephalopathy, cardiac shock , metabolic acidosis, respiratory failure, and multiorgan dysfunction. Despite the severity of initial presentation, after 48 hours of cooling, he showed signs of improvement in his encephalopathy, cardiac output, and multisystem dysfunction. The prompt treatment of his complications did improve his overall morbidity, with little direct effect on his neurological function. Nineteen days after admission, although not at baseline, patient was sitting, ambulating with assistance, tolerating a normal diet, and speaking. He was discharged to inpatient rehabilitation on Keppra, and instructed to obtain a follow-up MRI.  It is our conjecture that our patient’s fortuitous clinical outcome was in part due to his therapeutic hypothermia treatment, by reducing secondary injury and preserving neurological function.

This case illustrates the potential for therapeutic hypothermia to decrease the
neurologic sequelae due to drowning induced hypoxic-ischemic encephalopathy. Presentation to the emergency department in severe metabolic acidosis is associated with a poor outcome.(1,7) Due to the severity of the patient’s initial presentation coupled with his favorable outcome, and the fact that this therapy is proven beneficial in other populations with similar mechanisms of neurological injury, therapeutic hypothermia should be studied more thoroughly in pediatric hypoxic ischemic encephalopathy.

References:

1. Childhood Drowning, Robyn J. Meyer, Andreas A. Theodorou and Robert A. Berg, Pediatrics in Review 2006;27;163
2. Centers for Disease Control and Prevention, National Center for Injury Prevention and Control. Web-based Injury Statistics Query and Reporting System (WISQARS) [online].
3. Therapeutic Hypothermia for Neuroprotection,  C Jessica Dine MD, Benjamin Abella MD, Emergency M edicine Clinic N America  27 137-149 (2009)
4. Townsend: Sabiston Textbook of Surgery, 19th ed., Section 1: Surgical Basic Principles
5. A Bersten MD , N Soni MD, Oh's Intensive Care Manual (Elsevier LTD 2009, 6th ed) Chapter 45 Cerebral protection.
6. Journal of Pediatrics:  Hypothermia and other Treatment Options for neonatal encephalopathy:  An executive summary of the Eunice Kennedy Shriver NICHD Workshop.
7. Cardiac arrest and post resuscitation of the brain, Kirkham F, EurJ Paediatr Neurology. 2011 Sep;15(5):379-89.

_______________

Trisomy 9: A Case Report of Neurological Sequelae and Literature Review

Josi Herren, BS
Ohio University Heritage College of Osteopathic Medicine
Athens, Ohio

Abstract
This case report provides a current review of literature available on trisomy 9. Our specific case report is of a 10-year-old male patient with trisomy 9 mosaic syndrome with neurological sequelae including behavioural, communicative, and learning issues. This case allows other physicians to understand the possible development of patients with trisomy 9 along with other diagnoses to which the genetic disease can contribute. It also aims to emphasize the importance of reporting developmental delays.

Introduction
Trisomy 9 is a rare genetic disorder in which patient have three copies of Chromosome 9, which can be in all (without mosaicism) or in some cells within the body. Complete trisomy 9 is a lethal diagnosis, with most cases ending in spontaneous abortion in the first trimester.(1)  Most reports of trisomy 9 mosaicism report pre- and postnatal features associated with trisomy 9. Conclusions made from previous observation and surveying show presence of low set ears, micrognathia, bulbous nose, microphthalmia, joint abnormalities, cardiac problems, feeding and respiratory difficulties in immediate postnatal period, genitourinary malformations, prominent occiput, and musculoskeletal abnormalities, to name a few.(2,3,4) Tracking rare incidence syndrome reported a study of 14 individuals, in which functional ability was assessed by form of surveying the parents. Results showed a range of functionality with the general conclusion of mild developmental delay. However, there is a lack of literature addressing the functional capacity of long-term survivors with trisomy 9, which can benefit clinical advice and parenting. This case report is of a 10-year- old male with trisomy 9 mosaicism.

Case Presentation
A male infant presented at birth with trisomy facies, a patent ductus arteriosus (PDA), and congenital testicular herniation of the testis. After genetic testing, it was confirmed he had trisomy 9 mosaic syndrome. At current age of 10 years of age, the patient presents with a neurological sequelae, behavioural, communicative and learning issues. This developmental delay is somewhat attributed to delayed receptive and expressive language skills, speech apraxia and delayed pragmatic skills. Communication is achieved using Pragmatic Organisation Dynamic Display (PODD) and patient verbalizes a few words. The patient displays repetitive behaviours such as body tensing and hand posturing and was diagnosed with obsessive compulsive disorder (OCD). Enuresis, encopresis, hemorrhoids and lack of full bowel control was also reported. Other notable factors are frequent nose bleeds, night terrors, asthma, eczema, temporal mandibular joint disorder and scoliosis.

Conclusion/Discussion
This case of trisomy 9 is the first to note neurological sequelae in a long term survivor. The purpose of this report highlights the features for developmental expectations and emphasizes the importance for noting developmental delays along with other diagnoses associated with this rare trisomy disorder. Current literature available on the development of patients by the Tracking Rare Incidence Syndrome’s (TRIS) project begins to address the development of children with trisomy 9 by form of survey patient’s families, and concludes that the development and functioning varied widely among the 14 children with trisomy 9. Other literature address mostly the physical and medical conditions associated with the disease. See table 1.

This case presents to us a detailed report of a 10-year-old male patient with trisomy 9 with specifics about his development. We hope this case is important for parents with trisomy 9 and that by presenting this case, it can provide advice for them.

Table 1. Current Literature on Trisomy 9 (5,6,7)

_______________

Obesity, Type Two Diabetes Mellitus, Asthma
All Present With Prader-Willi Syndrome
A Case Study

Kyle Hazlett
Biological Sciences
Wright State University
Dayton, Ohio

Carl R Backes, DO, FACOP
Professor Pediatrics
Ohio University College of Osteopathic Medicine
Chairman Dept. Pediatrics Doctors Hospital Ohio Health

Abstract:
The United States has a problem with obesity. In the US,18.4% of teenagers are considered obese and the percentage is even higher in adults at 35.1%.(1) Our case study reinforces complications, correlations of obesity with type II diabetes and asthma and it’s effect in a patient with Prader-Willi Syndrome.

Case Presentation:
Patient X is a 13-year-old Indiana female who weighs 103kg. She presented to Kiddie West Pediatrics complaining of wheezing and shortness of breath. Patient X has previously been diagnosed with Prader-Willi Syndrome (PWS). She has morbid obesity, obstructive sleep apnea, type II diabetes, and asthma. (2) Her FEV1 is 68%. Her hemoglobin A1C is 5.7% and her IGFI is 757. Finally her BMI is 34.6.(2)

Methods/Results:
Treatment included inhaled Albuterol treatment, then adding an inhaled steroid, oral antihistamines and continuing Genotropin 12mg and Glucophage 1000mg bid.(2)

Discussion:
Prader-Willi Syndrome is an uncommon genetic birth defect affecting an estimated 1 in 15,000 people. The syndrome is caused by an abnormal chromosome (15 at q11q13). A patient with PWS presents between 6 months and 6 years of age with an insatiable appetite. They are unable to control their eating habits. Eventually they develop obesity and type 2 diabetes mellitus.(3)

Type II diabetes mellitus (TTDM) is presently the most prevalent form of diabetes. “Symptoms of TTDM include frequent urination, excessive thirst, weight loss, extreme hunger, sudden vision changes, tingling or numbness in the hands or feet, fatigue, very dry skin, sores that are slow to heal and frequent infections.”(4) TTDM is also known as insulin-resistant diabetes. With TTDM the body initially produces enough insulin to break down the extra dietary glucose. Eventually, however, the insulin produced does not work and the body cannot maintain a normal blood glucose level.(5) The risk of developing TTDM increases drastically when the individual is overweight. “Almost 90% of people with type 2 diabetes are overweight.”(6)

The CDC makes a clear difference between overweight diagnosing an individual as overweight or obese. It is based on body mass index (BMI).(7) A normal adult BMI has a range of 18.5 to 24.99. Overweight individuals BMI’s must be in between 25 and 29.9. and anyone’s BMI above 30 is obese. According to the CDC “obesity is associated significantly with the development of asthma, worsening asthma symptoms, and poor asthma control.”(8)

A study conducted at the University at Buffalo found a correlation between obesity and asthma. “The study initially focused on the prevalence of asthma between normal weight and obese patients. It then looked at the behavior of asthma-linked genes and how they we altered when an obese person undergoes gastric bypass surgery. With obesity “Four genes are activated with chronic inflammation.”(9) “The activated genes cause mononuclear cells to produce greater amounts of inflammatory factors (interleukin 4, LIGHT and lymphotoxinb receptor) which contributes to allergic inflammation.(9) There are also two more compounds that affect asthma and are more prevalent in obese patients verse normal weight patients. MMP-9 and nitric oxide metabolites (NOM) are asthma related factors at higher concentrations in morbidly obese patients.”(9) After gastric bypass in obese patients there is a significant reduction in asthma related factors (MMP-9 and NOM levels). The expressing asthma-related genes noted changed.(9) Previously, no biological, mechanistic explanation in asthma diagnosis was made other than obesity raises the diaphragm and reduces lung volumes. Now a biologic mechanism explains the connection between Type II diabetes, obesity and asthma. We, as physicians, can now predict a 100% increased prevalence in asthma when associated with morbid obesity and type II diabetes.”(10)

Patient X has been diagnosed with PWS, with her insatiable appetite and morbid weight gain (BMI 34.6). With associated type II diabetes, we can now explain her newly diagnosed moderate persistent asthma. To eliminate multiple medications patient X uses, she is placed on a restricted diet with daily exercise. We anticipate long standing health issues with her chromosomal abnormality (PWS).

References:

1. "Obesity and Overweight." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 14 May 2014. Web. 24 Aug. 2014.
2. Personal Communication: Backes DO, Carl R
3. Jones, Kenneth L., MD. "Unusual Brain And/or Neuromuscular Fingdings." Smith's Recognizable Patterns of Human Malformation (Major Problems in Pathology). 5th ed. United States of America: W.B Saunders, 1997. 202-03. Print.
4. "Diabetes Mellitus Signs and Symptoms." Diabetes Mellitus Signs and Symptoms. UCSF Medical Center, n.d. Web. 17 Aug. 2014.
5. Type 2." American Diabetes Association. N.p., n.d. Web. 16 Aug. 2014.
6. "Your Weight and Diabetes." Obesity.org. N.p., 2010. Web. 19 Aug. 2014.
7. "Disability and Obesity." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 01 Apr. 2014. Web. 19 Aug. 2014.
8. "AsthmaStats." Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, 09 Aug. 2013. Web. 20 Aug. 2014.
9. University at Buffalo. “Obesity and Asthma: Study finds a link in the genes.” ScienceDaily. ScienceDaily, 18 July 2013.
10. Paresh Dandona, Husam Ghanim, Scott V. Monte, Joseph A Caruana, Kelly Green, Sanaa Abuaysheh, Teekam Lohano, Jerome Schentag, Sandeep Dhindsa, Ajay Chaudhuri. Increase in the mediators of asthma in obesity and obesity with type 2 diabetes: Reduction with weight loss. Obesity, 2013; DOI:10.1002/oby.20524

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Osteogenesis Imperfecta: A Complicated Diagnosis With Concerns For Misdiagnosed Physical Abuse

Kayla Crager
Biological Sciences
Wright State University
Dayton, Ohio

Carl R Backes, DO, FACOP
Professor Pediatrics
Ohio University College of Osteopathic Medicine
Chairman Dept. Pediatrics Doctors Hospital Ohio Health

Abstract:
Osteogenesis Imperfecta (OI) is an uncommon disease, causing defective production of collagen.(3) There are different types of OI, causing misconceptions and difficulty in diagnosing the disease initially. These are two case studies of OI infants with different presentations.

Presentation of Case I:
An 8-week-old male presented to Nationwide Children’s Hospital emergency room with a right spiral femur, a tibial fracture, a left sixth rib fracture, and subdural hematoma initially from alleged physical abuse. Pain medication was given and the leg was splinted. There were no other injuries noted. The parents said the babysitter was with the baby prior to the hospital visit. Child services and the police were notified by the emergency room physician. The mother stated there was no family history of bleeding disorders, no history of previous fractures and no history of trauma. Several relatives on father’s side, however, were diagnosed with osteogenesis imperfecta.(1) A genetic evaluation by Nationwide Children’s Hospital confirmed blue sclerae, no bruising or unusual features, and normal muscle tones. The infant failed a hearing test and bone density was low. Genetic testing confirmed a mutation in COL1A1 gene for both patient and biological father confirming the diagnoses of osteogenesis imperfecta type I.(1)

Presentation of Case II:
We present a female patient, who despite a normal pregnancy in the mother, had several fractured bones in utero including but not limited to the tibia, fibula, humerus and several ribs.(1) After birth, blue sclerae and bone deformities were observed. There was no family history of birthing problems, learning defects, osteoporosis or osteopenia. Her diagnosis of OI type II was confirmed after genetic testing showed the COL1A1 mutation.(1)

Laboratory Results of Case I:
A bone density scan showed a result of .225 g/cm2, 2 months after the followup. Vitamin  D2 levels were low. The CBC revealed elevated RBCs, hemoglobin, and lymphocytes. Osteocalcin levels were elevated, calcium level was normal. Six months later a second CBC was obtained and showed an elevated platelet count. At that time phosphorous and osteocalcin levels were still elevated. Calcium level was normal.(1)

Laboratory Results of Case II:
A Babygram revealed osteopenia, several fractures and bowing of bones, and an under-developed skull.(1)

Treatments of Case I:
Patient was treated with acetaminophen and pamidronate Disodium infusions Q 3mo.(1)

Treatments of Case II:
The patient was given acetaminophen and IV pamidronate was recommended. Patient was also treated with several osteotomies.(1)

Discussion:
Osteogenesis Imperfecta(OI) is described as an inherited genetic disorder where collagen is not properly produced, causing fractures of the bone, along with several other signs and symptoms.[3] Collagen is a significant part of the body. It provides strength and durability to parts of the body such as the teeth, bone, eyes, and ligaments.(2) The body uses our genes as directions to produce proteins that constitute our cells, tissues, and organs. The gene COL1A1 codes for collagen type 1, which is the type of collagen that is modified in about 90% of all OI cases. Patients with OI types I, II, III, or IV experience a mutation in this COL1A1 gene, which causes the production of type 1 collagen to be altered or insufficient. This in turn affects the different parts of the body, which have collagen as an important part of its structure.(3)

In the United States about 25,000-50,000 are diagnosed with OI.(3) This disease is not common and it does not discriminate against gender or race. OI is genetically inherited and is normally 90% autosomal dominant. In rare cases (10%), OI is inherited as a recessive gene and affects another form of collagen besides type 1.(3) Common findings associated with OI include bone fractures, blue sclerae, respiratory difficulties, bone deformity, short stature, scoliosis, low bone density, trouble hearing and sometimes fractures in utero as well as dentinogenesis imperfect.(3)

There are several different types of OI. Type 1 is the most prevalent and mild.(3) Our first case presented with blue sclerae, bone fractures, low bone density and failed hearing test. The initial visit presented with several fractures including a spiral fracture of the femur, a fractured rib and tibia.(1)

Most fractures in kids less than 18 months of age are from some type of physical mistreatment.(4) The usual bones that are fractured from abuse are the ribs, femur and tibia as well as other long bones. A concerning type of fracture seen in abuse is a spiral fracture, which results from a twisting motion of the bone.(4) An initial examination of our patient suggested the possibility of physical abuse due to the spiral fracture.

The diagnosis of OI was confirmed after genetic testing revealed the mutation of the COL1A1 gene.(1) Genetic testing is conclusive in diagnosing OI.(2) Our patient was designated with a type 1 OI after physicians reviewed his case. The elevated labs included RBCs, hemoglobin, lymphocytes, osteocalcin and phosphorus.(1) This is due to the bone healing from the multiple bone fractures and lack of bone strength and density. Calcium levels remained normal as expected as OI affects the production of collagen not calcium.(3) The Patient’s BMD scan was .225 g/cm2, putting him in the 3rd percentile for infants from birth to one year of age.(1,5) Patients with type I OI have less fractures after puberty and usually are able to live normal lives without disease complications.

However, patients with type II OI have more serious complications.(2) Type II is the severest form of OI, usually resulting in death.(2) Case II presented with several fractures in utero. Broken bones in utero is a common finding in type II OI, and makes it easier to correctly diagnose OI and rule out abuse.(2) The Babygram revealed the infant had osteopenia, bowed limbs, and a skull that was not fully developed.(1) These are also indications of type II OI.(2) One significant difference between this patient is the fracture timing. In OI type II fractures occur in utero.

Summary:
OI is currently incurable, but there are treatment options including pamidronate infusions. This assists in increasing bone thickness and reducing its resorption.(2) Placing intramedullary rods in bones with osteotomies aids in the improvement of the bone deformities as well as prevention of potential fractures. Another treatment is physical therapy to help strengthen bone and surrounding muscles.(2)

Although OI is a rare disease, these cases show the importance of a thorough examination, history and observing radiographic and laboratory data.
Multiple fractures in utero make the diagnosis easier. Fractures after birth, however, especially spiral fractures are considered abuse until disproven.

References:

1. Personal Communication, Carl R. Backes, DO
2. Ramachandran, Manoj, Pramod Achan, David Jones, and Vinod Panchbhavi. "Osteogenesis Imperfecta ." Osteogenesis Imperfecta. Ed. Harris Gellman. Medscape, 1994-2014. Web. 18 Aug. 2014.
3. "Subscribe to TheBreakthrough Newsletter OrE-News." Osteogenesis Imperfecta Foundation. Osteogenesis Imperfecta Foundation, 2014. Web. 18 Aug. 2014.
4. Flaherty, E. G., J. M. Perez-Rossello, M. A. Levine, and W. L. Hennrikus. "Evaluating Children With Fractures for Child Physical Abuse." Pediatrics 133.2 (2014): E477-489. Web. 19 Aug. 2014.
5. Gallo, Sina, Catherine Vanstone, and Hope Weiler. "Normative Data for Bone Mass in Healthy Term Infants from Birth to 1 Year of Age." Normative Data for Bone Mass in Healthy Term Infants from Birth to 1 Year of Age. Ed. E.M. Lewiecki. Sina Gallo Et Al., 2012. Web. 24 Aug. 2014.