L-2-hydroxyglutaric aciduria (L2HGA) is a neurometabolic disorder characterized by macrocephaly, seizures, progressive mental retardation, pyramidal signs, ataxia and tremor. Dystonia is an under-recognized feature of this entity in the literature. We report two siblings with L2HGA, one of whom presented with writer's cramp followed by dystonia of the other hand. An elevated plasma lysine, high...

A 2900 g infant was delivered at an outside hospital at about 37 weeks gestation. The pregnancy had been uncomplicated until premature rupture of membranes about 34 hr before the normal vaginal delivery. At birth Apgar scores were 5 and 7. Physical examination revealed macrocephaly with bulging fontanelles, a right parietooccipital hematoma and caput, right facial palsy, and right hemiparesis. ...

A 44-year-old woman presented with childhood-onset refractory complex partial seizures. Medical history revealed neonatal macrosomia and hypotonia, early-onset overgrowth in infancy, macrocephaly and mild intellectual disability. Examination revealed macrodolichocephaly with prominent forehead and facial dysmorphisms, scoliosis, large hands and arachnodactyly (Figure 1). Neuroimaging showed mac...

Cowden syndrome or multiple hamartoma syndrome, is a rare genetic condition inherited in an autosomal dominant pattern characterized by cutaneous manifestations, polyps, thyroid gland neoplasias, and macrocephaly. This report presents the case of a 36-year-old patient who looked for dental treatment for a gingival nodule. Current and past medical history and oral and facial manifestations led t...

In this report we describe two cases of fetal midline intracranial cyst presenting with ventriculomegaly at routine detailed second-trimester scan. In the first case, additional findings included a banana-shaped hypoplastic cerebellum and macrocephaly; autopsy after termination of the pregnancy revealed a glioependymal cyst. In the second case, subsequent follow-up examination revealed a progre...

Trisomy 1 is a rare chromosomal anomaly and has never been reported in Korea. Clinical features of trisomy 1 include macrocephaly, prominent forehead, flat nasal bridge, low set ears, and micrognathia, all of which result in a very distinguishable facial structure. A child with trisomy 1 also suffers from mental retardation and/or developmental delays. In this case report, the child was diagnos...

Sir Frederick Treves first showed Joseph Merrick, the famous Elephant Man, to the Pathological Society of London in 1884. A diagnosis of neurofibromatosis was suggested in 1909 and was widely accepted. There is no evidence, however, of café au lait spots or histological proof of neurofibromas. It is also clear that Joseph Merrick's manifestations were much more bizarre than those commonly seen ...

He denied any same history and lesions in his family and child. Patient’s medical, personal and family history was non-contributory. In physical examination dysmorphic features such as macrocephaly, prognatism and linear scar of operation in right side of his mandible were observed. Inspection revealed numerous (over 20) pigmented, some skin colour, papules and nodes on his cheeks, eyebrow, nos...

Macrocephaly, increased intracranial pressure, and hydrocephalus are common related conditions that lead to cross-sectional imaging of the infant and young child. Imaging plays a central role in establishing the diagnosis and guiding disposition and treatment of these patients. In this review, a general overview is provided, and the more common causes of hydrocephalus are presented, including p...