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Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy Inga Aikman, Kristen Makowski, Olivia Wenger, Ian Rossman and Jeffrey D

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Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy Inga Aikman, Kristen Makowski, Olivia Wenger, Ian Rossman and Jeffrey D Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy Inga Aikman, MD, MPH,a,b Kristen Makowski, MD,a Olivia Wenger, MD,a,c Ian Rossman, MD, PHD,a Jeffrey D. Solomon, MDa An 11-week-old unvaccinated, term Amish boy initially presented with poor abstract feeding, microcephaly, failure to thrive, and developmental delays. His a b fi Akron Children’s Hospital, Akron, Ohio; Division of Critical physical examination was signi cant for both weight and head circumference Care and Hospital Medicine, Department of Pediatrics, being less than the third percentile, and he was noted to have micrognathia, Brody School of Medicine, East Carolina University, Greenville, North Carolina; and cNew Leaf Center, Mount truncal hypotonia, and head lag. He was admitted to the pediatric hospital Eaton, Ohio medicine service for further diagnostic evaluation. Laboratory studies Written consent was obtained from the patient’s assessing for endocrinological and metabolic etiologies yielded negative family before the writing of this case. The case was results, and imaging studies (including a chest radiograph, echocardiogram, also approved by the Akron Children’s Hospital and abdominal ultrasound) were normal. However, intracranial calcifications Institutional Review Board. were noted on a head ultrasound. The etiology of his constellation of Dr Aikman led the initial writing of the manuscript, symptoms was initially thought to be infectious, but the ultimate diagnosis recruited various specialists for writing the manuscript, revised all versions of the manuscript, was not made until after discharge from the pediatric hospital medicine and was involved in the care of the patient; Dr service. Makowski contributed to the writing of the manuscript, revised the manuscript, and was involved in the care of the patient; Dr Wenger contributed to the writing of the manuscript, revised DR MAKOWSKI (PEDIATRIC RESIDENT) the manuscript, and was involved in the care of the (temperature: 37.2°C), with a normal patient; Dr Rossman contributed to the writing of the An 11-week-old unvaccinated Amish heart rate (140 beats per minute) and manuscript, revised the manuscript, and was boy born at term presented to the respiratory rate (44 breaths per involved in the care of the patient; Dr Solomon minute) for age. revised the manuscript and was involved in the care pediatric emergency department with of the patient; and all authors approved the final an 8-week history of poor feeding and His physical examination was pertinent manuscript as submitted and agree to be 3-week history of fussiness and chest for irritability, micrognathia, bilateral accountable for all aspects of the work. “rattling” per his parents. When anterior ear pits, truncal hypotonia, Dr Aikman’s current affiliation is Division of Critical evaluated in the emergency and head lag. His cardiovascular Care and Hospital Medicine, Department of department, he was noted to be fussy examination revealed regular rate and Pediatrics, Brody School of Medicine, East Carolina University, Greenville, NC. and not easily consoled and had rhythm, without murmurs, rubs, or DOI: sustained oxygen saturations near 85% gallops. He had strong and equal https://doi.org/10.1542/peds.2019-2795 responsive to supplemental oxygen by femoral pulses. His lung examination Accepted for publication Jun 25, 2020 nasal cannula (0.5 L per minute). Vital was benign, with normal breath sounds Address correspondence to Inga Aikman, MD, MPH, signs were significant for both weight bilaterally and no retractions. His Division of Critical Care and Hospital Medicine, abdomen was soft and nondistended, Department of Pediatrics, Brody School of Medicine, (4.43 kg) and head circumference East Carolina University, 600 Moye Blvd, Room PCMH (37 cm), being less than the third with normal bowel sounds; there was 2CH253, Greenville, NC 27834. E-mail: aikmani18@ percentile for age on the World no hepatomegaly or splenomegaly. His ecu.edu Health Organization (WHO) genital examination was unremarkable, PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, standard male weight-for-age and head with descended testes. 1098-4275). circumference-for-age growth charts, Laboratory studies performed in the Copyright © 2020 by the American Academy of respectively, and length of 57.5 cm emergency department were Pediatrics (at the sixth percentile on the WHO remarkable for an elevated aspartate standard male length-for-age growth aminotransferase of 146 U/L and To cite: Aikman I, Makowski K, Wenger O, et al. fi chart). Blood pressure was elevated at normal alanine aminotransferase of Microcephaly, Hypotonia, and Intracranial Calci cations in an 11-Week-Old Boy. Pediatrics. 2020;146(3):e20192795 120/88 mm Hg. He was afebrile 26 U/L. Lactate was elevated to 4.1 Downloaded from www.aappublications.org/news by guest on October 2, 2021 PEDIATRICS Volume 146, number 3, September 2020:e20192795 DIAGNOSTIC DILEMMAS mmol/L, and his ammonia level was they were uncertain. He was admitted context of his hypotonia. Because of normal at 49 µmol/L. A complete to the pediatric hospital medicine his hypotonia and hypoxemia, he blood cell count was unremarkable, service for further evaluation. would not be an ideal candidate for with a white blood cell count of 9.6 3 procedural sedation for a brain MRI Dr Aikman, what would be your 103 cells per µL, hemoglobin of study; however, a head ultrasound differential diagnosis for this patient, 13.5 g/dL, hematocrit of 35%, and could provide some information and what evaluation would you platelet count of 284 3 103 cells per regarding the presence of an acute pursue initially? µL. The remainder of his complete or chronic bleed or hydrocephalus metabolic panel included sodium of without exposing the patient to the 142 mEq/L, potassium of 5.3 mEq/L, DR AIKMAN (PEDIATRIC HOSPITAL radiation of a computed tomography chloride of 110 mEq/L, bicarbonate MEDICINE FELLOW) (CT) scan of the head. Reviewing of 21.2 mEq/L, blood urea nitrogen his state metabolic screen and This patient’s respiratory symptoms of ,5 mg/dL, creatinine of 0.24 obtaining urine and serum amino take initial priority in our evaluation, mg/dL, glucose of 121 mg/dL, but his microcephaly, irritability, acids, urine organic acids, and thyroid calcium of 10.1 mg/dL, total bilirubin developmental delay, and studies could further elucidate if of 1.7 mg/dL, alanine phosphatase hypertension raise significant he has an underlying metabolic of 332 U/L, and total protein of concerns. His respiratory symptoms condition. 6.2 mg/dL. Urine and blood cultures began at ∼3 weeks of age, which were performed, and both revealed His chest radiograph was could indicate a persistent, untreated, no growth. A lumbar puncture was unremarkable. On his second hospital or new infectious etiology, such as not performed. day, 4 extremity blood pressures were pneumonia, bronchiolitis, pertussis, elevated in each limb (129/83 mm Hg He was born at 40 weeks’ gestation or multiple viral infections in in right upper, 125/89 mm Hg in left via spontaneous vaginal delivery. His succession. If he had an underlying upper, 136/66 in right lower and birth weight was 2.5 kg (fifth anatomic abnormality such as 129/99 mm Hg in left lower limbs, percentile on the WHO standard male laryngotracheomalacia or other respectively). Cardiology was weight-for-age growth chart). predilection for obstructive apnea, an consulted, and an echocardiogram Maternal screening laboratory acute illness could exacerbate these was performed and unremarkable. results, including for group B conditions. Although his parents did Urine organic and amino acids, Streptococcus, were negative. There not endorse any cyanosis or plasma acylcarnitine, pyruvic acid, were no complications during his worsening respiratory status with thyroid stimulating hormone, and mother’s pregnancy or delivery. His feeds, his hypoxemia on presentation free T4 were obtained and were medical history was significant for and family history of possible normal. His state newborn screen was hospital admission at 2 weeks of age congenital heart disease raise concern reviewed and found to be normal. for a febrile illness; at that time, blood for a congenital cardiac lesion or and urine culture results were vascular ring or sling. His The following day, a pneumogram negative, and a lumbar puncture was developmental delay, coupled with was done and revealed no apneic not performed. He was also noted to his poor weight gain, microcephaly, events. He was transitioned to room have positional desaturations and irritability as well as elevated air and had intermittent unsustained between 86% and 89% during that aspartate aminotransferase and desaturations to the upper 80s, which admission. Additionally, his primary lactate levels, could be due to an did not require supplemental oxygen. care physician was concerned that he underlying genetic, metabolic, or The renal Doppler ultrasound result was not meeting developmental neurologic condition. was negative. Manual blood pressure milestones, including lack of social Given his hypoxemia and concern for readings were obtained and were smile and uncoordinated limb elevated blood pressures, it would be within normal limits for age, so initial movements. prudent to evaluate for an underlying elevated blood pressures were likely He lived with his mother, father, and 3 congenital cardiac anomaly with an secondary to mechanical older siblings, one of whom had echocardiogram. A renal ultrasound measurement. A routine EEG was a history of
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