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Benign external hydrocephalus in a boy with autosomal dominant microcephaly
I Akaboshi1, T Ikeda, S Yoshioka
1Akaboshi Pediatric Clinic, Department of Pediatrics and Neurosurgery, Kumamoto City Hospital, Japan.
Clinical Genetics
|March 1, 1996
Summary
This study reports a rare case of benign external hydrocephalus in an infant with autosomal dominant microcephaly. The condition resolved spontaneously, highlighting a potential genetic link between these neurological findings.
Area of Science:
- Pediatrics
- Genetics
- Neurology
Background:
- Microcephaly is a congenital condition characterized by a smaller than normal head size.
- Benign external hydrocephalus (BEH) is a condition typically seen in infants, involving excess cerebrospinal fluid.
- Autosomal dominant inheritance patterns suggest a strong familial link.
Observation:
- A 3-month-old boy presented with microcephaly and bifrontal extracerebral fluid accumulation on MRI.
- The infant's mother and maternal grandmother also had microcephaly without neurological issues.
- The extracerebral fluid resolved spontaneously, leading to a diagnosis of benign external hydrocephalus.
Findings:
- The patient was diagnosed with benign external hydrocephalus.
- The family history strongly suggests an autosomal dominant inheritance pattern for microcephaly.
- This case represents the first reported instance of benign external hydrocephalus co-occurring with autosomal dominant microcephaly.
Implications:
- This case suggests a potential genetic association between autosomal dominant microcephaly and benign external hydrocephalus.
- Further research may elucidate the shared genetic pathways or mechanisms.
- Understanding this association can aid in the diagnosis and management of affected individuals and families.
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