Frequent focal spikes were observed in 1 child during the interictal period. EEG findings are variable and may normalize completely after therapy. Pathological lesions in biotinidase deficiency vary probably based on the severity of the illness preceding death. Poorly delineated necrotic lesions widely affect the pons, hypothalamus, hippocampus, and medulla. Viewed microscopically, these areas showed microcavitation, capillary proliferation, and gliosis.
Myelin appears to be more severely affected than neurons or axonal processes.
Severe edema may be evident in many major white matter tracts. Some patients require higher dosages. If children are left with residual neurological disease, they may require treatments for developmental delay, spasticity, and bulbar dysfunction in addition to biotin. An experienced child neurologist, metabolic specialist, or geneticist should assist in the workup and evaluation. A neurologist or a pediatrician skilled in the evaluation of a child who is neurologically impaired should perform follow-up examinations and procedures to document residual neurological injury.