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Case 280: Trichopoliodystrophy
Kin Fen Kevin Fung1, Yin Yee Kwong1, Wing Sze Mak1
1From the Department of Diagnostic and Interventional Radiology, Kwong Wah Hospital, 25 Waterloo Road, Yau Ma Tei, Hong Kong (K.F.K.F., Y.Y.K., W.S.M.); and Department of Radiology, Hong Kong Children's Hospital, Hong Kong (Y.L.E.K.).
Insights
This case study details an infant with progressive hypotonia and developmental delay, presenting with unique physical findings. Further investigation is crucial for diagnosing this rare pediatric neurological condition.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Clinical Genetics
Background:
- An 8-month-old boy presented with progressive truncal hypotonia and developmental delay.
- Family history revealed two older brothers who died in early childhood from pneumonia, with similar symptoms of reduced muscle tone and seizures in one.
Observation:
- The infant exhibited marked head lag and poor object interaction, with normal visual and auditory development.
- Physical examination revealed sparse, coarse hair, mild pectus excavatum, and head circumference below the third percentile.
- Radiographs and brain MRI were performed for further diagnostic evaluation.
Findings:
- The infant displayed significant neurological and developmental deficits.
- Family history suggests a potential inherited condition affecting muscle tone and neurological function.
- Distinct physical characteristics were noted, warranting comprehensive investigation.
Implications:
- Early diagnosis and intervention are critical for managing pediatric hypotonia and developmental delay.
- This case highlights the importance of thorough family history in diagnosing rare genetic or neurological disorders.
- Further research is needed to identify the underlying cause and guide treatment strategies.
Abstract:
HistoryAn 8-month-old previously healthy boy was referred to our institution by the maternal child health center for progressive truncal hypotonia and developmental delay. This infant was born after an uncomplicated pregnancy with no perinatal complications. He was delivered at full term via spontaneous vaginal delivery. Two of his older male siblings died around 2-3 years of age due to pneumonia. According to the parents, these siblings also displayed reduced muscle tone, and one of them developed recurrent seizure.On physical examination, the child showed marked head lag and did not reach out to objects. Visual and auditory development were normal. His head circumference was below the third percentile, and his body weight was at the 10th percentile. His hair was sparse and coarse. A mild pectus excavatum deformity was present. Skull and chest radiographs were obtained (Figs 1, 2), and the patient underwent MRI of the brain (Fig 3).
