Phenotype #0000228829

Individual ID	00301731
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	delivered normally at term. Mother was 26 years old G2P1+0. Antenatal U/S at 26 weeks gestation showed small head <5th centile, banana shaped cerebellum, and a mass at the lumbar spine. Examination showed no facial dysmorphic features. There was dorsolumbar myelomeningeocele (3x5 cm), leaking CSF, paraplegia with no movements in the lower limbs which were held in flexion at hips and extended knees, patulous anus with absent anal reflex. Sensations and reflexes were absent in the lower limbs. CT brain revealed hydrocephalus and Chiari malformation with prominent posterior fossa structures and herniated cerebellar vermis. MRI brain showed dilated lateral ventricles, the cerebellum is normally shaped, and it is low lying, with herniation of the vermis, and Arnold-Chiari malformation. The myelomeningocele was repaired, and she required ventriculoperitoneal shunt for subsequent hydrocephalus. She was incontinent of stools and urine. She developed urinary tract infections and sepsis with multidrug resistant klebsiella pneumonae. She was on ventilatory support, she also had refractory seizures. She died at the age of two years. Parents were first cousins and there was strong family history of neural tube defects. Her younger sister who also had neural tube defects and died at the age of 9 months with severe bronchiolitis causing respiratory failure.
Inheritance	Familial, autosomal recessive
Age/Examination	2y10m (2 years, 10 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-22 17:20:34 +02:00 (CEST)
Date last edited	N/A