1/105. Abnormal prenatal sonographic findings in the posterior cranial fossa: a case of Joubert's syndrome.Joubert's syndrome is a well-documented but rare disorder characterized by a variable combination of central nervous system, respiratory, renal and eye anomalies. The most significant and constant neuropathological finding is partial or complete agenesis of the cerebellar vermis. The syndrome was first described by Joubert and colleagues as a familial agenesis of the cerebellar vermis and appears to be inherited as an autosomal recessive trait. A case of Joubert's syndrome is described in which second-trimester ultrasonography demonstrated abnormal findings in the fetal posterior fossa with associated renal abnormalities. However, postnatal sonography of the posterior fossa could not confirm the prenatal findings, and the diagnosis of Joubert's syndrome was only later established by computed tomography of the neonatal brain in the knowledge of the characteristic clinical picture.- - - - - - - - - - ranking = 1keywords = central nervous system, brain, nervous system (Clic here for more details about this article) |
2/105. A case associated with Walker Warburg syndrome phenotype and homozygous pericentric inversion 9: coincidental finding or aetiological factor?We describe a rare occurrence of pericentric inversion in homologues of chromosome 9 observed in a 2-mo-old female baby with eye and brain abnormalities. Her clinical and neuroradiological features are similar to the signs of walker-warburg syndrome. We found the same inversion in heterozygous condition in all metaphases of both parents, who are related, and in two grandparents and their mother. The cytogenetic abnormality alone does not explain the phenotype in this patient, but it warrants further linkage studies with emphasis on the pericentric region of chromosome 9 in patients with walker-warburg syndrome phenotype. This family case is unique and raises suspicions about whether the pericentric region of chromosome 9 has any connection with the phenotype of Walker-Warker syndrome.- - - - - - - - - - ranking = 0.27623157842809keywords = brain (Clic here for more details about this article) |
3/105. PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review.OBJECTIVES: To introduce PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and eye abnormalities) to the ophthalmologic literature; to report the first case of PHACE syndrome associated with congenital glaucoma; and to review the ocular and systemic findings that may occur in this entity. DESIGN: Case report and literature review. methods: The authors report a child with PHACE syndrome and congenital glaucoma and review the ophthalmologic and systemic manifestations of this syndrome. RESULTS: A 9-month-old girl with PHACE syndrome was treated. She had a large right facial hemangioma, central nervous system (CNS) abnormalities, and cardiac anomalies. glaucoma was detected in her left eye, and she underwent glaucoma surgery. She did well following two glaucoma procedures, and the facial hemangioma is responding to medical treatment. CONCLUSIONS: Ophthalmologists who examine children with large facial hemangiomas should consider PHACE syndrome in the differential diagnosis and should obtain appropriate CNS imaging studies and cardiac evaluation when the diagnosis is suspected. Congenital glaucoma should be added to the list of PHACE-associated ocular anomalies.- - - - - - - - - - ranking = 0.72376842157191keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/105. Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome.Cerebellar vermis hypoplasia (CVH) is part of many different malformation syndromes, especially Joubert syndrome. However, the nosology of these disorders remains uncertain. We reviewed reports of 100 children with cerebellar vermis hypoplasia, and ocular or renal involvement. Although the status of the upper brainstem was not adequately documented in most of these patients, some had hypoplasia and dysplasia of the ponto-mesencephalic isthmus and the superior portion of the cerebellar vermis, which results in a "molar tooth" sign on MRI scan. Several distinct syndromes were apparent among this group. We conclude that (a) hypoplasia of the cerebellar vermis, especially the anterior vermis, is often associated with a complex brainstem malformation; (b) the latter comprises a "molar tooth" brainstem and vermis hypoplasia-dysplasia malformation complex; (c) this complex may include the Dandy-Walker malformation, occipital cephalocele, and some abnormalities of the cerebrum as evidenced by frequent mental retardation; and (d) the "molar tooth" sign or malformation is causally heterogeneous as it occurs in several distinct malformation syndromes including Joubert syndrome, Arima syndrome, Senior-Loken syndrome, COACH syndrome, and probably familial juvenile nephronophthisis.- - - - - - - - - - ranking = 0.82869473528427keywords = brain (Clic here for more details about this article) |
5/105. prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.We report the prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly, alobar holoprosencephaly and cyclopia. A 26-year-old primigravida woman was referred for genetic counselling at 23 gestational weeks due to sonographic findings of intra-uterine growth retardation and cranio-facial abnormalities. Level II ultrasonograms further demonstrated alobar holoprosencephaly, a proboscis above the eye and a single median orbit consistent with cyclopia. Genetic analysis and fluorescence in situ hybridization on cells obtained from amniocentesis showed distal 3p trisomy (3p23-->pter) and 7q36 deletion, 46,XX,der(7)t(3;7)(p23;q36), resulting from a paternal t(3;7) reciprocal translocation. The pregnancy was terminated. autopsy further confirmed the presence of arrhinencephaly, agenesis of the corpus callosum and a single ventricle of the brain. The phenotype of this antenatally diagnosed case is compared with those observed in 10 previously reported cases with simultaneous occurrence of partial trisomy 3p and terminal deletion 7q. All cases are associated with severe forms of holoprosencephaly and facial dysmorphism. This delineates an autosomal imbalance syndrome or a dosage effect involving duplication of distal 3p/deficiency of terminal 7q and dysmorphogenesis of the forebrain and mid-face.- - - - - - - - - - ranking = 0.55246315685618keywords = brain (Clic here for more details about this article) |
6/105. Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis.Fukuyama-type congenital muscular dystrophy, walker-warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal-recessive diseases, characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. The classification of these disorders remains controversial. We analyzed five patients with congenital muscular dystrophy from four families who had severe eye and brain anomalies, such as retinal dysplasia and hydrocephalus, using polymorphic microsatellite markers flanking the Fukuyama-type congenital muscular dystrophy locus on chromosome 9q31. All patients were heterozygous for the Fukuyama muscular dystrophy founder haplotype with 3-kb insertion. In three cases, the other chromosome without the 3-kb insertion exhibited the same haplotype with a nonsense mutation on exon 3 of the Fukuyama gene. Thus, these three patients were compound heterozygotes for the condition. Severe eye anomalies such as retinal dysplasia or detachment and hydrocephalus could be included in the clinical spectrum of Fukuyama muscular dystrophy. The clinical spectrum of this disease is much broader than previously presumed.- - - - - - - - - - ranking = 0.55246315685618keywords = brain (Clic here for more details about this article) |
7/105. Visual-evoked potential evidence of chiasmal hypoplasia.PURPOSE: To show that chiasmal hypoplasia or aplasia need not be an isolated developmental anomaly and to examine the spectrum of associated clinical findings to explore the possibility that these patients may represent a phenotypic manifestation of a developmental gene anomaly. DESIGN: An observational case series. PARTICIPANTS: Five infants, between several weeks and 7 months of age, in whom the electrophysiologic characteristic of chiasmal hypoplasia had been noted were included. methods: Flash electroretinography and flash and pattern visual-evoked potentials (VEPs) were elicited from all patients. Clinical ophthalmologic examinations, including funduscopy, were performed, and all patients had magnetic resonance imaging (MRI) brain scans. MAIN OUTCOME MEASURES: The occipital distribution of monocular VEP response peaks was studied. The symmetry of lateral channel responses was compared for monocular stimulation. RESULTS: All five patients had a crossed asymmetry in the monocular VEP occipital distribution, which is consistent with a paucity of fibers crossing at the chiasm. The MRI findings supported this electrophysiologic observation, illustrating degrees of chiasmal hypoplasia and variable coincidence of other midline abnormalities of the brain. Optic disc appearances varied from normal to hypoplastic and colobomatous. CONCLUSIONS: The ophthalmologic and MRI findings of five patients who showed a crossed asymmetry in monocular flash VEPs are consistent with a paucity of axons crossing at the chiasm. The similarities between achiasmia in humans and mice due to a Pax2 gene anomaly are discussed.- - - - - - - - - - ranking = 0.55246315685618keywords = brain (Clic here for more details about this article) |
8/105. Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases.Cerebro-oculo-nasal syndrome is a rare multiple congenital anomaly syndrome with structural anomalies of the central nervous system, anophthalmia, and abnormal nares. In this report two additional cases are presented, one of them without central nervous system and/or ocular anomalies.- - - - - - - - - - ranking = 1.4475368431438keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/105. A case of walker-warburg syndrome.walker-warburg syndrome (WWS) is an autosomal recessive disorder characterized by type II lissencephaly, cerebellar and retinal anomalies, and congenital muscular dystrophy. We report a female diagnosed with WWS based on clinical criteria. This patient was found to have fetal hydrocephalus on ultrasonography at 29 weeks of gestation, and exhibited severe hypotonia, ocular malformations, and hydrocephalus at birth. MRI revealed type II lissencephaly, hydrocephalus, and other severe brain malformations. Genetic analysis was performed to distinguish WWS from severe Fukuyama-type congenital muscular dystrophy (FCMD), which has numerous findings in common. This revealed no expression of the founder haplotype or single-stranded conformation polymorphism (SSCP) abnormalities. Since the life expectancy of patients with FCMD is longer, differential diagnosis should be performed precisely.- - - - - - - - - - ranking = 0.27623157842809keywords = brain (Clic here for more details about this article) |
10/105. Delleman syndrome: report of a case with a mild phenotype.Delleman syndrome is a rare disorder characterised by orbital cysts, micro/anophthalmia, malformations of the central nervous system, focal aplasia cutis, and multiple skin appendages (oculocerebrocutaneous syndrome). Although cutaneous findings provide the main clues for the diagnosis, the syndrome has received little attention in the dermatological literature. A new case of oculocerebrocutaneous syndrome with predominant and typical cutaneous involvement is reported.- - - - - - - - - - ranking = 0.72376842157191keywords = central nervous system, nervous system (Clic here for more details about this article) |
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