Case 346 -- Microcephaly and developmental delay

CLINICAL HISTORY:

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.

PHYSICAL SIGNS:

    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

DIFFERENTIAL DIAGNOSES:

    Angelman syndrome
    Prader-Willi syndrome
    Fragile-X syndrome
    Rett syndrome
    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:

    MRI of Brain:

        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