1/14. Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings.In two siblings (a female and a male neonate), severe microcephaly, bilateral absence of the pyramids, severe hypoplasia of the cerebral peduncles, and dysplasia of the inferior olives was found together with microphthalmia, facial malformations and multiple contractures of the extremities. In both cases, the cerebral hemispheres otherwise showed a more or less normal gyral pattern with the insula incompletely covered by the opercula, and a tom but otherwise intact corpus callosum. In case 2, congenital cataract was also observed. The present cases can be characterized as a rapidly fatal, familial syndrome, probably transmitted as an autosomal recessive trait, and have several features in common with the Neu-Laxova syndrome. They differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cerebellar abnormalities, and no other organ malformations. The present cases belong to a group of heterogeneous syndromes which have microcephaly, ocular and facial malformations, multiple contractures, and ichthyosis-like skin in common.- - - - - - - - - - ranking = 1keywords = cerebral (Clic here for more details about this article) |
2/14. PIBI(D)S: clinical and molecular characterization of a new case.The term PIBI(D)S has been used to indicate a rare recessively inherited genetic disorder characterized by photosensitivity, mild non-congenital ichthyosis, brittle sulphur-deficient hair with trichoschisis (trichothiodystrophy), impaired intelligence, occasionally decreased fertility and short stature. To the best of our knowledge, about 20 cases have been reported in the literature. Here we report the characterization of the hair, brain, ultraviolet sensitivity and DNA excision repair defects of a new patient affected by PIBI(D)S. The diagnosis of PIBI(D)S syndrome was made in our patient on the basis of the clinical features and then confirmed by hair microscopy and biochemical analysis. Our patient has increased muscular tone, alteration of the deep tendon reflexes and psychomotor retardation, all consistent with hypomyelination of the brain showed by magnetic resonance imaging and computed tomography. A deficiency of dna repair capacity was demonstrated in our patient. Furthermore, complementation analysis by cell fusion assigned our patient to xeroderma pigmentosum group D. The nucleotide excision repair defect of the other reported patients with PIBI(D)S falls generally into the same group as xeroderma pigmentosum group D and carry a mutation on the same repair gene (XPD). The relationship between these molecular characteristics and the clinical spectrum of PIBI(D)S is discussed.- - - - - - - - - - ranking = 0.034308913200983keywords = brain (Clic here for more details about this article) |
3/14. Auditory manifestations of keratitis-ichthyosis-deafness (KID) syndrome.OBJECTIVE: Evaluation of the auditory manifestations of keratitis-ichthyosis-deafness (KID) syndrome, a rare genodermatosis characterized by follicular hyperkeratosis, vascularizing keratitis, and congenital hearing loss. STUDY DESIGN: Five individuals with sporadic KID syndrome were evaluated in the outpatient audiology clinic at the Warren Grant Magnuson Clinical Center of the National Institutes of health. methods: Audiologic examinations included pure-tone audiometry, speech audiometry, and middle ear immittance testing. Auditory brainstem responses and otoacoustic emissions were analyzed in 2 subjects. RESULTS: Four subjects had prelingual, bilateral, profound sensorineural hearing loss, whereas the fifth subject had significant residual hearing that exhibited no progression on serial audiograms. All 5 subjects had a history of non-erosive keratosis obturans and cutaneous cysts in the external ear canals that prevented continuous use of ear molds. CONCLUSIONS: The sensorineural hearing loss in KID syndrome is generally prelingual and profound. This combination of auditory and cutaneous phenotypes is similar to those previously reported for KID syndrome. KID syndrome presents a difficult challenge for communication rehabilitation because keratitis may impair the perception of sign and spoken language, and the cutaneous manifestations routinely curtail use of external amplification devices.- - - - - - - - - - ranking = 0.017154456600492keywords = brain (Clic here for more details about this article) |
4/14. prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and kallmann syndrome due to an Xp deletion.We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin k metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.- - - - - - - - - - ranking = 0.017154456600492keywords = brain (Clic here for more details about this article) |
5/14. temporal bone findings in keratitis, ichthyosis, and deafness syndrome. Case report.In 1981, the term KID syndrome was suggested for patients with congenital ichthyosis associated with deafness and keratitis. We had a chance to examine the temporal bone of an infant with this syndrome. This patient showed no auditory brain stem response in either ear. temporal bone studies revealed cochleosaccular abnormality. These findings are offered as a possible explanation for the patient's deafness. The pathologic inner ear findings of congenital deafness syndromes associated with ichthyosis have been heretofore reported in Refsum's syndrome and in a case with universal alopecia. In these cases, the temporal bone pathologic findings were a result of cochleosaccular abnormality. From our case and previous reports, it is suggested that the deafness associated with congenital ichthyosis might be the result of cochleosaccular abnormality.- - - - - - - - - - ranking = 0.017154456600492keywords = brain (Clic here for more details about this article) |
6/14. Cerebellar and cerebral atrophy in trichothiodystrophy.Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy.- - - - - - - - - - ranking = 1.6666666666667keywords = cerebral (Clic here for more details about this article) |
7/14. Ichthyosiform scaling secondary to megavoltage radiotherapy.Acquired ichthyosis is a rare dermatosis associated with a number of malignancies. Side effects seen on the skin secondary to megavoltage radiotherapy are uncommon but may include fine dry desquamation and tanning. We present a case of ichthyosiform scaling limited to the radiation fields in a patient treated for brain metastases of a primary small cell lung carcinoma. The reader is reminded that side effects of megavoltage treatment do occur on the skin. A brief review of these effects is included.- - - - - - - - - - ranking = 0.017154456600492keywords = brain (Clic here for more details about this article) |
8/14. collodion babies with Gaucher's disease.Two neonates with acute infantile cerebral Gaucher's disease had prominent collodion skin. ichthyosis has been described in some cases of metabolic lipid disorders, however, this is the first report of the association of lamellar desquamation of the newborn (collodion baby) with Gaucher's disease.- - - - - - - - - - ranking = 0.33333333333333keywords = cerebral (Clic here for more details about this article) |
9/14. Cranial CT in the sjogren-larsson syndrome.Cranial CT in a case of sjogren-larsson syndrome (SLS) showed a striking loss of attenuation of supratentorial white matter. This is in accordance with the myelin loss found at microscopic brain examination of patients with SLS, but not with the only report of five patients examined by cranial CT. The considerable myelin loss may be detected only by more recent generations of CT scanners and seems to be stationary during lifetime.- - - - - - - - - - ranking = 0.017154456600492keywords = brain (Clic here for more details about this article) |
10/14. Vacuolar myelinopathy of the brain and lamellar ichthyosis.A 13-month-old child with lamellar ichthyosis and numerous cutaneous and systemic infections died following an abrupt episode of severe hypotension. Postmortem examination revealed white matter vacuolation in the brain stem tegmentum and cerebellar hemispheres similar to that seen in toxicity from hexachlorophene, to which our patient was not exposed. The patient had been treated with many commonly used medications, including 13-cis-retinoic acid, a relatively new drug with apparent therapeutic benefit in hyperkeratotic dermatoses. This had been given systemically during the patient's last week of life. Possible relationships between the white matter lesions and extrinsic toxic agents are discussed.- - - - - - - - - - ranking = 0.085772283002458keywords = brain (Clic here for more details about this article) |
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