Microcephaly, brain malformation and extensive intracranial calcification
Presentation
Recurrent seizures, poor feeding since birth, small head size, and delayed developmental milestones. Prompted to imaging and laboratory investigations.
Patient Data
Extensive bilateral cerebral (cortical, subcortical, and periventricular), cerebellar and basal ganglionic scattered calcification plaques.
Significant brain volume loss with prominent gyral pattern and dilatation of the ventricular system as well as extra-axial CSF spaces.
Vertebrobasilar and carotid curvilinear scattered calcified plaques.
Small head size (microcephaly).
Case Discussion
Additional findings and history were pertinent including irritability, bilateral anterior ear pits, truncal hypotonia, and head lag.
Dystrophic multiple brain calcifications represent the sequelae of a remote event, rather than a recent onset, and can occur from a cerebral insult of almost any etiology.
To help narrow the diagnostic significance of multiple brain calcifications with microcephaly and developmental brain anomalies, we need to consider prenatal history, perinatal events, family history, clinical examination, laboratory and imaging findings. These data put these findings into context and allow a meaningful differential diagnosis to emerge as follow:
Congenital TORCH infection (particularly CMV and toxoplasmosis infection) is high on the differential, moreover, congenital Zika virus infection may be suggested (if endemic regions).
Also, metabolic causes are highly suggested in this case especially due to extensive brain calcifications as well as vascular calcifications, Fahr disease is a primary familial brain calcification, Fahr syndrome typically on secondary causes like endocrinopathies (hypoparathyroidism, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, and hyperparathyroidism) as well as vasculitis
Other differentials also include genetic or mitochondrial disease as Aicardi-Goutières syndrome (AGS).
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