Case 346 -- Microcephaly and developmental delay
Contributed by Jing Yu, MD, PhD, Federico Monzon, MD, PhD, Xiao-Ming Yin, MD, PhD, Jeffrey Kant, MD, PhD
Published on line in April 2003
This baby boy with postnatal onset microcephaly had speech impairment and global developmental delay that were noted at 12 months of age. He also had feeding problems which included gagging, choking and frequent drooling. He was born by Cesarean section for breech presentation to a 28-year-old G1P1 subsequent to an unremarkable pregnancy. There is no family history of developmental delay or neurological problems.
Head Circumference: less than 2nd percentile for age
Height: 45th percentile for age
Weight: 25th percentile for age
General: Frequent smiling and laughter, distractible and hyperactive
HEENT: Strikingly pale hair and pale blue eyes, no dysmorphic features
Neurol: Involuntary hand movements, wide-based gait, dystonically upgoing toes
Other chromosomal abnormalities
Congenital metabolic disorders
Cerebral palsy or other intrauterine injuries to the brain
Speech impairment secondary to hearing loss
RESULTS OF PREVIOUS STUDIES:
- Incomplete myelination in the periventricular white matter. A dysmyelination or demyelination process should be considered.
- Increased T2 signal bilaterally in the putamen, white matter and gray matter of the medial temporal lobe, static. This may represent gliosis and/or infarction.
EEG: Left posterior slowing and runs of rhythmic delta in the left posterior region and background slowing for age.
Karyotype: 46, XY
Audiological Evaluation: Normal
Thyroid Testing: Unremarkable
Extended Newborn Screen: Unremarkable
Metabolic Workup: Unremarkable
MOLECULAR DIAGNOSTIC STUDIES