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Microcephaly, Hypotonia, and Intracranial Calcifications in an 11-Week-Old Boy
Inga Aikman1,2, Kristen Makowski3, Olivia Wenger3,4
1Akron Children's Hospital, Akron, Ohio; aikmani18@ecu.edu.
Insights
A rare congenital disorder caused severe developmental delays and microcephaly in an infant. Intracranial calcifications were key to diagnosing this challenging pediatric case.
Area of Science:
- Pediatrics
- Neonatology
- Medical Genetics
Background:
- Infants may present with non-specific symptoms like poor feeding and failure to thrive.
- Microcephaly and developmental delays can indicate underlying congenital or genetic abnormalities.
- Intracranial calcifications are a significant finding requiring thorough etiological investigation.
Abstract:
An 11-week-old unvaccinated, term Amish boy initially presented with poor feeding, microcephaly, failure to thrive, and developmental delays. His physical examination was significant for both weight and head circumference being less than the third percentile, and he was noted to have micrognathia, truncal hypotonia, and head lag. He was admitted to the pediatric hospital medicine service for further diagnostic evaluation. Laboratory studies assessing for endocrinological and metabolic etiologies yielded negative results, and imaging studies (including a chest radiograph, echocardiogram, and abdominal ultrasound) were normal. However, intracranial calcifications were noted on a head ultrasound. The etiology of his constellation of symptoms was initially thought to be infectious, but the ultimate diagnosis was not made until after discharge from the pediatric hospital medicine service.
