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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report clinical findings in 2 sisters and 5 sporadic cases with a "new" type of craniosynostosis/craniofacial dysostosis and shortness of stature. Premature closure of lambdoid sutures and posterior part of sagittal suture causes a posteriorly narrow, dolichocephalic skull with small, flat or bulging occiput and protuberance of the forehead; disturbance of the growth of basal skull structures leads to craniofacial dysostosis and (secondary) anomalies of the face. In one patient the coronal suture was also involved. One of the patients had a congenital heart defect. Four untreated patients had mental retardation; 3 had craniosynostectomy with more or less normal psychomotor development afterwards. Some patients had hydrocephalus and 1 had a brain malformation (agenesis of the corpus callosum with presumed interventricular lipoma). The observation of sisters with the same condition suggests autosomal recessive inheritance. This etiologic hypothesis is supported by the fact that 4 of 7 patients are of Spanish, Mexican, or Puerto Rican ancestry; this population probably has a rather high gene frequency and the trait should be relatively common in areas occupied by this population and their descendents. The condition has been designated craniofacial dyssynostosis.
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PMID:Studies of malformation syndromes of man XXXIX: a craniosynostosis-craniofacial dysostosis syndrome with mental retardation and other malformations: "craniofacial dyssynostosis". 95 68

Intracranial lipoma are usually localized in the corpus callosum and rarely extends to the subgaleal region. Only eight cases of lipoma of the corpus callosum with extracranial extension were reported in the literature. Seizures and mental retardation were the most common clinical findings in these patients. Data from the literature show that resection of intracranial lipoma has catastrophic results. The resection must be restricted to the extracranial portion. We report a child with lipoma of the corpus callosum with extracranial extension with no neurologic deficit submitted to resection of the extracranial extension.
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PMID:[Lipoma of the corpus callosum with extracranial extension through frontal bone defect]. 858 30

We describe a de novo apparently balanced reciprocal translocation, 46,X,t(X;16)(q28;q11.2), in a 13 year old girl with median cleft of the upper lip, pedunculated skin masses on the nasal septum, short stature, and mental retardation. Pai syndrome is characterised by median cleft of the upper lip, pedunculated skin mass(es) on the face, and midline lipoma(s) of the central nervous system. The cause of this syndrome is unknown, although autosomal dominant inheritance has been proposed. The translocation breakpoints in the present patient may be candidate regions for a gene responsible for median cleft of the upper lip and pedunculated skin mass(es) on the face, including Pai syndrome.
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PMID:Median cleft of upper lip and pedunculated skin masses associated with de novo reciprocal translocation 46,X,t(X;16)(q28;q11.2). 939 96

The patient was a 69-year-old male who had visited our psychological department due to mental retardation. Pericallosal lipoma was indicated by MRI taken during treatment. On December 30, 1998, the patient fell from steps and struck his forehead hard, and then limb palsy occurred. He was emergently brought to our hospital. Under the suspected diagnosis of traumatic cervical spinal cord injury, preventive therapy was performed to observe the clinical course in which paralysis gradually improved. On January 22, 1999, however, he died of cardiopulmonary arrest due to sudden suffocation. In general, the connection of choroid plexus lipoma and pericallosal lipoma is bilateral in most cases. In our patients, MRI suggested that a connection with cerebral ventricles through choroidal fissure existed with no right and left difference, however, autopsy findings revealed that the lipoma existed along the left cerebral arch with obvious connection only with the left choroid plexus. The present case seemed to be a very rare case.
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PMID:[An autopsy case of pericallosal lipoma with mental retardation]. 1058 16

Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are caused by a wide range of neuropathological lesions. We describe three patients with ENS, all of whom had in addition to the characteristic features of ENS intracranial and/or intraspinal lipomas. In one patient the lipoma extended from the thoracal vertebra 8 to the 4th ventricle; in the second patient it was localized on T9, and in the third patient an intracranial lipoma was located at the right cerebellopontine angle. The intraspinal lipomas caused a significant spastic movement disorder. So far, CNS lipomas have not been described as typical neuropathological findings in ENS. The differential diagnosis to encephalocraniocutaneous lipomatosis with the typical finding of CNS lipoma is discussed.
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PMID:CNS lipoma in patients with epidermal nevus syndrome. 1107 Nov 40

Gomez-Lopez-Hernandez syndrome is a very rare genetic disorder with a distinct phenotype (OMIM 601853). To our knowledge there have been seven cases documented to date. We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia, corneal opacity, mental retardation and striking phenotypic features (e.g., brachyturricephaly, hypertelorism, midface hypoplasia and low-set ears) consistent with Gomez-Lopez-Hernandez syndrome. In early childhood the patient demonstrated aggressive behavior and raging periods. He also had seizures that were adequately controlled by medication. Magnetic resonance imaging (MRI) revealed rhombencephalosynapsis, i.e., a rare fusion of the cerebellar hemispheres, also consistent with Gomez-Lopez-Hernandez syndrome. In addition a lipoma of the quadrigeminal plate was observed, a feature not previously described in the seven patients reported in the literature. Cytogenetic and subtelomere analyses were inconspicuous. Microarray-based comparative genomic hybridization (array-CGH) testing revealed five aberrations (partial deletions of 1p21.1, 8q24.23, 10q11.2, Xq26.3 and partial duplication of 19p13.2), which, however, have been classified as normal variants. Array-CGH has not been published in the previously reported children. The combination of certain craniofacial features, including partial alopecia, and the presence of rhombencephalosynapsis in the MRI are suggestive of Gomez-Lopez-Hernandez syndrome. Children with this syndrome should undergo a certain social pediatric protocol including EEG diagnostics, ophthalmological investingation, psychological testing, management of behavioral problems and genetic counseling.
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PMID:Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature. 1748 61

Sturge-Weber syndrome is one of the neurocutaneous syndromes. It is a rare, nonfamiliar disease that is characterized by facial port-wine stain, leptomeningeal angiomatosis, choroidal angioma, buphthalmos, intracranial calcification, cerebral atrophy, mental retardation, glaucoma, seizures and hemiparesis. CT and MR are complementary in the evaluation of this disease. Epilepsy is an essential feature of Sturge-Weber syndrome and it has a major significance for prognosis and treatment. We report a 2-year-old boy with Sturge-Weber syndrome who had in addition an intracranial lipoma, a temporal arachnoid cyst and a porencephalic cyst. This combination of intracranial lesions with Sturge-Weber syndrome has not been previously reported.
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PMID:Sturge-Weber syndrome accompanied with multiple congenital intracranial lesions. 1766 Sep 41

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies (Currarino triad). We studied a 3-year-old girl with Currarino triad who had additional systemic features and performed array comparative genomic hybridisation to look for chromosomal abnormalities. This girl had the typical spectrum of anomalies of the CS including (a) partial sacral agenesis (hemisacrum with remnants of only sacral S1-S2 vertebrae and a residual S3 vertebral body) associated with complete coccygeal agenesis, (b) pre-intrasacral dermoid, (c) intra-dural lipoma, (d) ectopic anus and (e) tethered cord. She had, in addition, pre- and post-natal growth impairment (<3rd percentile), severe microcephaly (<-3 SD) with normal gyration pattern and lack of cortical thickening associated with a hypoplastic inferior vermis, facial dysmorphism, sensorineural deafness and decreased serum levels of IGF-1. A de novo 10.3-Mb duplication of 7q34-q35 and an 8.8-Mb deletion on 7q36 were identified in this patient. The Homeobox HLXB9 (CS) gene is contained within the deletion accounting for the CS phenotype including microcephaly. The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with sensorineural deafness and mental retardation syndrome (OMIM no. 608747) are discussed. To the best of our knowledge, this is the first reported case of a patient with distal 7q chromosomal imbalance and features of CS triad (including microcephaly) and the first documented case of a patient with normal gyration pattern microcephaly. The spectrum of associated anomalies in this newly recognised phenotype complex consists of growth failure, typical facial anomalies with additional (previously unreported) nervous system abnormalities (e.g. sensorineural deafness) and somatomedin C deficiency.
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PMID:Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. 1983 31

A 32-year old man with Sturge-Weber syndrome, a rare congenital disease of multiple angiomatous lesions including cervical cortex, face, oral soft tissues, larynx and trachea, underwent the excision of a back lipoma. His hemangioma which extended into the region of the right ophthalmic nerve and superior maxillary nerve is extremely large. He also had mental retardation and epilepsy. No apparent hemangioma was found in his oral cavity, pharynxes, larynx and trachea by preoperative exam. His hemangioma made it difficult to cover his mouth and nose by usual face mask. Though we first considered awake intubation, he was difficult to obey our command. So we searched for the face mask covering his nose and mouth without pressing his facial angioma. Finally, we discovered the full-face mask for NIPPV. After induction with propofol, we confirmed the perfect mask fit, and ventilation by two-person method was effective. Then we administered rocuronium and fentanyl, and intubated without difficulty. The patient was maintained by sevoflurane. He was hemodynamically stable. He was extubated without bleeding and respiratory problems. We experienced general anesthesia of a patient with Sturge-Weber syndrome who had a giant facial hemangioma. With full-face NIPPV mask we safely induced general anesthesia.
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PMID:[Anesthetic management of a patient with Sturge-Weber syndrome associated with a giant facial hemangioma]. 2497 67

In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.
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PMID:Congenital malformations of the brain and spine. 2743 Apr 61


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