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Septo-optic dysplasia with congenital hepatic fibrosis
Koichi Minami1, Genkichi Izumi, Toshihiko Yanagawa
1Department of Pediatrics, Wakayama Medical University School of Medicine,Kimiidera, Wakayama, Japan.
Insights
This is the first reported case of septo-optic dysplasia (SOD) co-occurring with congenital hepatic fibrosis (CHF) in a pediatric patient. The case highlights the complex endocrine and hepatic manifestations of these rare conditions.
Area of Science:
- Pediatric Endocrinology
- Hepatology
- Developmental Neuroscience
Background:
- Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve hypoplasia, midline brain abnormalities, and pituitary dysfunction.
- Congenital hepatic fibrosis (CHF) is a rare inherited liver disease leading to portal hypertension and liver dysfunction.
Observation:
- A 7-year-old female presented with nystagmus and severe hepatosplenomegaly.
- Brain MRI revealed agenesis of the septum pellucidum, optic nerve hypoplasia, and pituitary stalk abnormalities.
- Liver biopsy showed fibrous septa with abundant bile ducts, consistent with CHF.
Findings:
- The patient was diagnosed with SOD and CHF, experiencing growth hormone deficiency, hypothyroidism, diabetes insipidus, and adrenal insufficiency.
- Genetic analysis of the HESX1 gene showed no mutations.
- This represents the first documented case of concurrent SOD and CHF in the English literature.
Implications:
- This case expands the known clinical spectrum of SOD, particularly its association with non-endocrine congenital anomalies.
- It underscores the importance of comprehensive evaluation in patients with SOD to detect potential co-existing conditions like CHF.
- Further research may elucidate shared genetic or developmental pathways between SOD and CHF.
Abstract:
This article reports a 7-year-old female with septo-optic dysplasia and congenital hepatic fibrosis. She manifested nystagmus and severe hepatosplenomegaly. Brain magnetic resonance imaging revealed agenesis of the septum pellucidum, optic nerve hypoplasia, pituitary gland stalk hypoplasia, and absence of the posterior pituitary gland. She was diagnosed with growth hormone deficiency, hypothyroidism, diabetes insipidus, and adrenal insufficiency. Thus, this case was regarded as septo-optic dysplasia. No mutation was evident in the coding and boundary regions of the homeobox gene HESX1. Percutaneous biopsy of the liver demonstrated the presence of broad septa of fibrous tissue containing abundant bile ducts without inflammatory cell infiltrates, a finding compatible with congenital hepatic fibrosis. Although there is an association between septo-optic dysplasia and neonatal cholestasis, believed to be related to hypopituitarism, this case of septo-optic dysplasia with congenital hepatic fibrosis is apparently the first reported in the English literature.