A patient with ectodermal dysplasia, Joubert's syndrome, and brain cysts
Introduction
Clinical findings of ectodermal dysplasia mainly include abnormal teeth, thin and sparse hair, and dystrophy of the nails. Patients with ectodermal dysplasia may present as sporadic cases, and as specific hereditary syndromes [1]. Recently, a patient with ectodermal dysplasia, and associated brain cysts was reported [2]. In this communication we report a similar case with ectodermal dysplasia, and brain cysts. Clinical and cerebellar anatomic changes consistent with Joubert's syndrome was the third component of the condition.
Section snippets
Case report
The patient is a 5-year-old boy who clinically presented with mental retardation, dental abnormalities associated with hypodontia, nail dystophy, thin hair and dysplasia of the retinal epithelium. It was noted that he had respiratory disorders, and a vertical nystagmus during infancy. A female sibling of the patient, who was dead during the neonatal period, was noted to have similar disoriented eye movements and respiratory disorders. A CT study showed vermian hypoplasia, bat-wing, and
Discussion
It is known that the embryonic ectoderm is divided into general body ectoderm, neural plate, neural crest and ectodermal placodes. The epidermis (including hair and nails) and the teeth arise from the general body ectoderm. The components of the central nervous system (including ependymal cells lining the Virchow–Robin spaces) as well as the epithelium of the retina arise from neural plate, neural crest and ectodermal placodes [3]. Therefore, in the present patient, a common ectodermal origin
Summary
A patient with ectodermal dysplasia, and multiple brain cysts (polycystic brain) originating from dilated Virchow–Robin spaces was recently reported. Two similar patients with polycystic brains and ectodermal dysplasia were recently found in England. Besides these, Brazilian and Japanese authors reported a number of patients with polycystic brains in the absence of clinical correspondence. None of these patients was associated with parasitic disease, trauma, stroke, meningoencephalitis,
R. Nuri Sener holds the position of Professor of Radiology at Ege University, Izmir, Turkey. He worked as a Neuroradiology Research Fellow in 1990–1991 and 1996–1997 at the Neuroradiology Section of the University of Texas, Health Science Center in San Antonio, TX, USA. Dr. Sener's primary field of research is Pediatric Neuroradiology.
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Joubert syndrome: Review and report of five cases from India
2007, Journal of Pediatric NeurologyNeuroepithelial cysts in a patient with Joubert syndrome plus renal cysts
2004, Journal of Child NeurologyJoubert syndrome co-existing with partial Xp trisomy: Review of the literature
2004, Genetic Counseling
R. Nuri Sener holds the position of Professor of Radiology at Ege University, Izmir, Turkey. He worked as a Neuroradiology Research Fellow in 1990–1991 and 1996–1997 at the Neuroradiology Section of the University of Texas, Health Science Center in San Antonio, TX, USA. Dr. Sener's primary field of research is Pediatric Neuroradiology.