New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death.
We report two sisters with a new syndrome of simplified gyral pattern, normal head circumference at birth but with subsequent development of microcephaly, intractable seizures, and early death. Dysmorphic features included coarse face, hypertrichosis, short nose, paranasal widening, long philtrum, short neck, upper limb micromelia, single transverse palmar lines, and clasp thumbs. The proband had repeated convulsions from shortly after birth and she required continuous artificial ventilation. Neurological examination showed absent sucking, rooting, Moro and grasping reflexes. MRI revealed a diffuse simplified gyral pattern with apparent agyria over the frontal lobes. Biochemical screening gave normal results. Her older sister had bilateral renal pelvic dilatation on prenatal ultrasound. She also developed severe convulsions on the first day of life, and she had to be artificially ventilated for 38 days. She had severe developmental retardation and neurological examination showed absence of spontaneous movements and Moro reflex, weak sucking reflex, and hypertonicity. CT scan of the brain showed a simplified gyral pattern. At 3 months, she developed hypocalcemia and hyperphosphatemia with normal levels of vitamin D and alkaline phosphatase, and parathyroid hormone level was low. Other biochemical tests gave normal results. She died at 5 months due to a massive aspiration event. Based on the unique clinical and radiological features found in our patients, we propose that this is a new syndrome.
Department of Medical Genetics, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel. basel@post.tau.ac.il
Lina
L
Basel-Vanagaite
Nufar
N
Marcus
Gil
G
Klinger
Mordechai
M
Shohat
Orly
O
Levit
Boaz
B
Karmazin
Ellen
E
Taub
Lea
L
Sirota
D001927:Brain Diseases / Q000235:genetics / Q000401:mortality / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000503:physiopathology*