Congenital or acquired microcephaly below the 3rd percentile

Specialty: Pediatrics.

Infantile microcephaly
decreased head circumference

Why it occurs

Primary autosomal recessive genetic microcephaly (disorder of cerebral cortical development due to mutations in genes involved in cell division and centrosome)
Congenital infections of the TORCH group (especially Zika virus, Cytomegalovirus, Toxoplasmosis with intracranial calcifications and destruction of fetal brain tissue)
Prenatal exposure to teratogens or toxicants (Fetal alcohol syndrome, cocaine, phenytoin or elevated maternal phenylalanine levels)
Severe perinatal hypoxic-ischemic encephalopathy (progressive loss of brain mass after ischemic insult with secondary brain atrophy)
Syndromic or complex craniosynostosis (premature fusion of multiple cranial sutures that physically restricts brain growth)

Initial workup

Precise measurement of head circumference using inextensible flexible measuring tape, comparing with WHO tables adjusted for gestational age, sex and ethnic origin (also measuring both parents to assess benign familial microcephaly). Transfontanellar ultrasound if the sutures and fontanelle are patent. Brain Magnetic Resonance (MRI) (the study of choice to assess cortical thickness, neuronal migration patterns, myelination and the presence of ventricular calcifications or malformations). Maternal-fetal serologies for TORCH and Zika virus (IgM/IgG antibodies, urine PCR for CMV in the first 21 days of life). Genetic study using molecular karyotyping or targeted panel sequencing.

red flags

Progressive decrease in the head circumference percentile in successive controls (acquired microcephaly); presence of myoclonic seizures or infantile spasms that are difficult to control; progressive muscle spasticity, hyperreflexia or decerebrate postures; severe and unequivocal delay in the acquisition of motor and intellectual neurodevelopmental milestones; striking facial or body dysmorphic features; chorioretinal calcifications detected by ophthalmoscopy (suggestive of CMV infection or toxoplasmosis).

Standard management

There is no drug to stimulate cranial or brain growth. Management focuses on physical and cognitive rehabilitation therapies and occupational therapy. If there are associated seizures: Phenobarbital — first choice anticonvulsant in the neonatal period; loading dose of 20 mg/kg IV, followed by maintenance doses of 3 to 5 mg/kg/day orally or IV
Levetiracetam — safe alternative; doses of 10 to 60 mg/kg/day
Specific nutritional supplements to ensure optimal caloric intake in case of associated swallowing difficulties.

Educational guidance for study. It is NOT a prescription recommendation. The actual choice depends on the cause, the patient, and current guidelines.

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Area: Pediatrics
Listed causes: 5
Treatment options: 3

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