The current study was designed to investigate co-occurrence of absolute/relative
microcephaly, absolute/relative
macrocephaly and congenital
nervous system disorders or neurological syndromes with symptoms visible since infancy, based on fundamental data acquired during the admission procedure at a
neurological rehabilitation ward for children and adolescents. The study applied a retrospective analysis of data collected during the hospitalization of 327 children and adolescents, aged 4-18 years, affected since infancy by
congenital disorders of the nervous system and/or neurological syndromes associated with a minimum of one neurodysfunction. To identify subjects with absolute/relative
microcephaly, absolute/relative
macrocephaly in the group of children and adolescents, the adopted criteria took into account z-score values for head circumference (z-score hc) and head circumference index (z-score HCI). Dysmorphological (x+/-3s) and traditional (x+/-2s) criteria were adopted to diagnose developmental disorders of head size. Regardless of the adopted criteria, absolute
macrocephaly often coexists with state after surgery of lumbar
myelomeningocele and
hydrocephalus, isolated
hydrocephalus, hereditary motor and sensory
polyneuropathy, and
Becker's muscular dystrophy (p < 0.001, p = 0.002). Absolute
macrocephaly is often associated with
neural tube defects and neuromuscular disorders (p = 0.001, p = 0.001). Relative
microcephaly often occurs with non-progressive
encephalopathy (p = 0.017, p = 0.029). Absolute
microcephaly, diagnosed on the basis of traditional criteria, is often associated with
epilepsy (p = 0.043). In children and adolescents with congenital
nervous system disorders or neurological syndromes with one or more neurodysfunction visible since infancy, there is variation in abnormal head size (statistically significant relationships and clinical implications were established). The definitions used allowed for the differentiation of abnormal head size.