1/24. The 3C syndrome: evolution of the phenotype and growth hormone deficiency.The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
2/24. Absence of 9q22-9qter in trisomy 9 does not prevent a Dandy-Walker phenotype.We report on a female fetus with partial trisomy 9 due to a reciprocal translocation in the mother. Routine ultrasound examination at 23 weeks showed hypoplasia of the cerebellar vermis, dilated foramen Magendii, and dilatation of the cisterna magna. Due to the poor prognosis, the parents opted for termination of pregnancy. A postmortem examination confirmed caudal hypoplasia and dysplasia of the cerebellar vermis, resulting in a massively dilated foramen Magendii through which the enlarged cisterna magna communicated with the fourth ventricle. There was also micropolygyria indicating migration disorder. Cytogenetic studies showed a 47,XX, der(9)t(7;9) (q35;q22.2)mat karyotype. Investigation of the parents revealed a translocation (7;9) (q35;q22.2) in the mother and a normal male karyotype in the father. We systematically searched the chromosome 9 gene map for genes that were trisomic in our fetus and genes that were located on the regions that had the normal two copies of genes. genes that could potentially be involved in the formation of the Dandy-Walker phenotype are transcription factors or genes responsible for the regulation of normal in particular cerebral development but also adhesion molecules. We conclude that one cause for Dandy-Walker malformation could be a gene dosage effect of genes located on 9pter-9q22. In addition, it seems that absence of trisomy 9 in q22-pter does not prevent abnormal cerebellar development.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
3/24. Neurocutaneous melanosis associated with Dandy-Walker malformation. case report and review of the literature.Neurocutaneous melanosis is a rare dysmorphogenesis associated with single or multiple giant pigmented cutaneous nevi and diffuse involvement of the leptomeninges anywhere in the central nervous system (CNS). It is interesting that almost 8-10% of patients had associated Dandy-Walker malformation in the literature, suggesting a common origin of the developmental abnormalities. In this article, we present a 2-year-old patient with neurocutaneous melanosis associated with Dandy-Walker malformation. We reviewed the literature and discuss the pathogenesis based on the preferred hypotheses so far.- - - - - - - - - - ranking = 4212.4091608772keywords = neurocutaneous (Clic here for more details about this article) |
4/24. Neuroendoscopic third ventriculostomy in dysmorphic brains.Neuroendoscopic third ventriculostomy (NTV) has superseded shunting as the treatment of choice in non-communicating hydrocephalus. Intracranial developmental anomalies have been considered to be relative contraindications for this procedure. We present one patient with a Dandy-Walker malformation and another with septo-optic dysplasia who presented with hydrocephalus. An NTV was performed successfully in both patients using a flexible neuroendoscope and utilising transendoscopic Doppler ultrasound to ensure a safe target area for ventriculostomy.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
5/24. Neurocutaneous melanosis in association with the Dandy-Walker complex, complicated by melanoma: report of a case and literature review.Neurocutaneous melanosis is a rare congenital neurocutaneous syndrome in which benign and malignant melanocytic tumors of the leptomeninges with large or numerous congenital melanocytic nevi develop. The Dandy-Walker malformation occurs as a broad posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilation of the fourth ventricle communicating with the posterior fossa. association of these entities is very unusual and only 10 previous reports were found in the literature. Our patient had multiple, medium-size to small melanocytic nevi present since birth. At 5 years of age the patient has intracranial pressure secondary to hydrocephalus. A diagnosis of Dandy-Walker malformation and suspected neurocutaneous melanosis was established after a skull computed tomography (CT) scan. Three months later the patient developed a right frontal tumor shown on the CT scan. The histologic finding was nevomelanocytic infiltration with strong pleomorphism. The tumor grew rapidly, producing neurogenic shock and death. The postmortem report indicated malignant melanoma.- - - - - - - - - - ranking = 8424.8183217544keywords = neurocutaneous (Clic here for more details about this article) |
6/24. Facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation: case report.Extreme variability of expression is characteristic of the facio-auriculo-vertebral sequence. Sporadic and familial cases have been reported with obvious etiologic heterogeneity. Most reports in the literature are of clinical cases. The purpose of this paper is to present a fetal autopsy case report of the facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation. A standard neonatal autopsy was performed on a macerated female fetus, gestational age 29 wk. External examination of the fetus revealed hypoplastic right face, low-set microtic right ear, and macrostomia. Internal examination showed hypoplastic thymus and lungs, a type I truncus arteriosus, and ventricular septal defect. Both kidneys showed evidence of pelvi-ureteric junction obstruction. The ovaries and fallopian tubes were present with an absent uterus and vagina (Rokitansky sequence). In addition, Dandy-Walker malformation was identified. Microscopically, a single hypoplastic parathyroid gland was noted and there was cystic renal dysplasia. We report the sixth case of the facio-auriculo-vertebral sequence in association with Rokitansky sequence and the first case of this sequence in association with Dandy-Walker malformation. In addition, features of DiGeorge sequence were present.- - - - - - - - - - ranking = 1keywords = dysplasia (Clic here for more details about this article) |
7/24. PHACE syndrome: report of one case.PHACE syndrome indicates a neurocutaneous syndrome including Posterior fossa malformation, large facial hemangioma, Arterial malformation, Coarctation of the aorta and/or other Cardiac anomalies, and eye abnormalities. We here report a female infant who presented a giant facial hemangioma. Dandy-Walker malformations with hydrocephalus was found subsequently. We treated the hemangioma with prednisolone, methylprednisolone, interferon-alpha, and local injections of corticosteroid. encephalomalacia was found later and it was attributed to carotid artery anomalies. Brain image studies, thorough ophthalmologic and cardiac examinations are strongly recommended in infants with large, plaquelike facial hemangiomas. Carotid angiography should also be considered if carotid artery anomalies are suspected.- - - - - - - - - - ranking = 4212.4091608772keywords = neurocutaneous (Clic here for more details about this article) |
8/24. Neurocutaneous melanosis associated with Dandy-Walker malformation and a meningohydroencephalocele. Case report.Neurocutaneous melanosis and Dandy-Walker malformation are both forms of rare congenital neurodysplasia. Interestingly, 8 to 10% of patients with neurocutaneous melanosis also harbor an associated Dandy-Walker malformation, indicating that these developmental abnormalities share a common origin. The authors describe a case of neurocutaneous melanosis associated with Dandy-Walker malformation and an occipital meningohydroencephalocele with a giant melanotic nevus. Multiple congenital liver masses were also observed in the infant. The occipital nevus was totally excised, and ventriculoperitoneal and cyst-peritoneal shunts were created to prevent subsequent hydrocephalus. Findings in this case support the possibility that excessive melanocytes hinder normal mesenchymal development, causing Dandy-Walker malformation and an occipital meningocele.- - - - - - - - - - ranking = 8425.8183217544keywords = neurocutaneous, dysplasia (Clic here for more details about this article) |
9/24. Neurocutaneous melanosis with associated Dandy-Walker complex.CASE REPORT: The authors report the case of a child with neurocutaneous melanosis associated with a Dandy-Walker complex. Magnetic resonance (MR) images showed shortened T1-weighted images in areas involving the amygdala, mesencephalon, rostral brain stem, and superior cerebellar surface compatible with melanin deposits. There was also partial agenesis of the cerebellar vermis with an enlarged fourth ventricle cyst along with a high-lying torcular and ventricular enlargement. Endoscopic fenestration and biopsy of the cyst wall was performed without evidence of abnormal melanin deposits in the meninges. OUTCOME: The patient eventually required ventriculoperitoneal shunting and at 1-year follow-up did not develop evidence of primary CNS melanoma. ILLUSTRATION: Computed tomography and MR images consistent with neurocutaneous melanosis and the Dandy-Walker complex are presented along with photographs of the cutaneous nevi. DISCUSSION: The major clinical and radiological features of this rare association, with only 11 previously reported cases, are discussed in detail.- - - - - - - - - - ranking = 8424.8183217544keywords = neurocutaneous (Clic here for more details about this article) |
10/24. Neurocutaneous melanosis in association with the Dandy-Walker complex.An infant had a giant congenital nevus, neurocutaneous melanosis (NCM), and a Dandy-Walker malformation of the brain. The diagnosis of NCM was suspected at 6 weeks of age when macrocephaly was noted, resulting in the discovery of hydrocephalus and a Dandy-Walker malformation. Serial magnetic resonance imaging scans demonstrated so-called T1 shortening in the pia or subarachnoid spaces surrounding the cerebellar vermis and in the temporal lobes anterior to the temporal horns. Eventually, a biopsy-proved melanoma developed in the anterior temporal lobe, in an area previously noted to have T1 shortening. Since meningeal cells have been shown experimentally to play a critical role in cerebellar development, we hypothesize that the association of NCM with a Dandy-Walker malformation may be due to meningeal melanosis disrupting the normal development of the cerebellum and fourth ventricle.- - - - - - - - - - ranking = 4212.4091608772keywords = neurocutaneous (Clic here for more details about this article) |
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