Benign familial macrocephaly in a mother-son pair.

Summary: benign familial macrocephaly in a mother-son pair: Macrocephaly can be found isolated or associated with other anomalies as a part of specific syndrome. Benign Familial Macrocephaly (BFM) is a primary macrocephaly and autosomal dominant and multifactorial inheritances had been proposed. Cole and Hughes (5), described clinically seven patients. We report two BFM cases, a boy and his mother. The male propositus showed macrocephaly with dolicocephaly shape, frontal bossing, narrowing biparietal and a square-shaped face. Neurological examination was normal. He had two computed tomography (CT) scans of the skull, one at 7 months of age showing extracerebral fluid collection in the anterior convexity and increased interhemispheric subarachnoid space and a second normal CT scan at 3 years of age. The mother showed macrocephaly with dolycocephaly shape and dished-out mid-face. This family exhibited the full clinical spectrum of BFM, with an autosomal dominant inheritance. Key-words: Benign familial macrocephaly - External hydrocephaly - Autosomal dominant inheritance. INTRODUCTION True macrocephaly is defined by an occipital frontal circumference (OFC) greater than 2 standard deviations (SD) corresponding for sex and age. Macrocephaly results from an increased cranial content on non ossified cranial vault sutures and can occur either as an isolated trait or associated with other anomalies in a specific syndrome. Aetiological, two categories, primary and secondary macrocephaly are described. Primary macrocephaly includes the group of patients with congenital hydrocephaly (all types), Achondroplasia, overgrowth syndromes (Sotos, Weaver, Simpson-Golabi-Behmel, Marshall-Smith), Fragile X syndrome, and BFM. CNS neoplasias and hydrocephaly due to infection diseases on early age are causes of secondary macrocephaly. In BFM enlarged, but non-hydrocephalic cerebrospinal fluid spaces are present and are associated with psychomotor retardation in some patients (2). Several authors have suggested an autosomal dominant inheritance (1, 3, 7) but a multifactorial inheritance seems also plausible (2). Cole and Hughes (5) first described seven patients with a distinctive primary macrocephaly detected in a group of patients with the phenotype of Sotos syndrome, suggesting that their patients represent a new syndrome or were BFM examples. The main clinical features in BFM are: macrocephaly (>3.5 SD), somatic overgrowth, delayed bone age, typical facies, and variable development delay (5). The radiological features include extracerebral fluid collection, dilatation of subarachnoid spaces and mild to moderate ventriculomegaly. In this paper, we present a boy and his mother with BFM. CASE REPORT PATIENT 1 The 5-year-old propositus was first examined at 2 years because of macrocephaly. He was the first child born to healthy, non consanguineous parents aged 26 (father) and 30 years (mother). The OFC of the father could not be obtained. He had a healthy sister. Pregnancy was uneventful and he was delivered at term by caesarean section because to cephalopelvic disproportion. Apgar scores and somatometry at birth were not recorded, but normal neonatal condition was noticed. Psychomotor development was normal. At 5 years of age OFC was 55.7 cm (>2.8 SD), height was 1 10.7 cm (>0.87 SD), and weight 19.3 kg (>0.52 SD). He had macrocephaly with dolichocephalic shape, frontal bossing, biparietal narrowing, and a square-shaped face with dishing out of the mid portion in both the anteroposterior and biparietal planes, without other anomalies (Fig. 1). Neurological examination was normal and there was no evidence of hydrocephaly or hypotonia. A cranial CT scan at 7 months of age showed extracerebral fluid collection in anterior convexity and increases interhemisferic subarachnoid space. A second cranial CT scan at 3 years old was normal (Fig. 2). The bone age was similar to the chronological age. …