[P2-35] Michelin Tire Baby Syndrome in a Girl with Hydrocephalus: A Case Report
Background: Michelin tire baby syndrome (MTBS) (MIM: 156610) is a rare inherited condition characterized by the folding of excess skin, which leads to ringed facial dysmorphisms, and cardiac and genital anomalies. We report here on MTBS in a female patient with hydrocephalus. Patient and Methods: The patient is a girl delivered without incident at 37 weeks of gestation. Her head circumference was normal. At four months of age, she showed macrocephaly and was referred to Fukuoka University Hospital at five months of age. Examination there also showed multiple ring shaped skin folds on her neck, trunk, and extremities. Her head circumference was 49.6cm (+6.38SD) and her anterior fontanelle was enlarged and hard. She showed low set ears, blepharophimosis, a depressed nasal bridge, narrow mouth and closely spaced eyes. She had no cardiac or genital anomalies. Cranial CT and MRI demonstrated hydrocephalus and a posterior cranial fossa arachnoid cyst. She had papilledema, which frequently indicates increased intracranial pressure. Her mother and brother had similar histories of skin folds and facial abnormalities, but without hydrocephalus. Results: As a result of these symptoms, we diagnosed the patient with Michelin tire baby syndrome (Michelin tire baby syndrome: MTBS) and at five months of age, she was given ventriculoperitoneal shunt placement for decompression. Conclusion: Hydrocephalus should be recognized as a rare but important central nervous system complication in MTBS.