Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-year-old girl with Down syndrome was admitted to our hospital, associated with hypotonia and dyspnea. She presented frog-posture and shallow breathing. The blood gas analysis revealed hypercapnic acidosis with pH 7.371, PO2 74.6 mmHg, PCO2 52.6 mmHg, and BE 3.5. The cervical X-ray films with flexion and extension of head showed anterior dislocation of the atlanto-axial articulation. Magnetic resonance imaging clearly showed a severe cord compression between C1 and C2. In children, spinal cord compression induced by dislocation of the atlanto-axial articulation is very rare. However, we should take into consideration of this insidious risk associated often with Down syndrome.
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PMID:[A female child with Down syndrome complicated by spinal cord compression by atlanto-axial dislocation]. 841 98

Achondroplasia is the most common genetic disorder associated with bone dysplasia. The mode of inheritance is autosomal dominance, while most cases appear to represent a new mutation. Achondroplastic patients suffer from dwarfism, and from typical features of the head and limbs (rhizomelia, macrocephaly, frontal bossing and kyphosis). Half of the patients show various neurological complications. The most serious complication of achondroplasia is respiratory impairment, apnea and sudden infant death, resulting from compression of the medulla oblongata. This study describes the neurosurgical sequels in 10 achondroplastic patients, who underwent 12 surgical procedures. The average age was 14 years (ages ranged from 3 months to 40 years). The patients suffered from back pain, muscle weakness, incontinence, hypotonia, psychomotor delay, apnea and respiratory arrest. Four patients were diagnosed as suffering from obstructive sleep apnea. Craniocervical MRI showed: narrowing of the foramen magnum, fusion of C1, spinal stenosis, and severe cervicomedullary or spinal cord compression. In 5 patients the MRI also showed ventriculomegaly of the lateral and third ventricles. Seven patients underwent foramen magnum decompression and C1 laminectomy. Three patients with severe spinal cord compression underwent laminectomy of the involved spines (T12-L5). Two of the patients required more then one operation due to the recurrence of their neurological symptoms. There was no need for duraplasty or shunt procedures. The average hospital stay was 6 days. Eight patients showed improvement or resolution of symptoms, with an average follow-up period of 13.5 months after the last operation (ranged 6-24 months). We conclude that early neurological and MRI evaluations are required in achondroplasia patients, in order to prevent the high morbidity and mortality during infancy and childhood. In adults, MRI evaluation is needed if the patient has neurological symptoms. Early identification and immediate cervicomedulary decompression procedure can prevent the serious complications occurring in achondroplasia, including respiratory failure, apnea and sudden death.
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PMID:[Neurosurgical aspects in achondroplasia: evaluation and treatment]. 1175 76

In mucopolysaccharidosis VI, or Maroteaux-Lamy syndrome, deficiency of N-acetylgalactosamine 4-sulfatase leads to storage of glycosaminoglycans (GAGs) and MPS VI patients often develop spinal cord compression during the course of the disease due to GAG storage within the cervical meninges, requiring neurosurgical intervention, as intravenous (IV) enzyme replacement therapy (ERT) is not expected to cross the blood-brain barrier. We report the use of intrathecal (IT) recombinant human N-acetylgalactosamine 4-sulfatase (arylsulfatase B, or ASB) in a MPS VI child with spinal cord compression whose parents initially refused the surgical treatment. Assessments were performed at baseline, with clinical, neurological and biochemical evaluations, urodynamic studies and MRI of the CNS. Changes on these parameters were evaluated after IT infusions of ASB administered monthly via lumbar puncture (LP) in a IV ERT naive patient. To our knowledge, this was the first MPS VI patient who received IT ERT. Despite significant urodynamic improvement and some neurological amelioration, the patient developed worsening of walking capacity. After IV ERT was started, the patient presented with a generalized hypotonia and a life-saving surgical fixation of the neck was then performed. The results observed on this MPS VI patient suggest that instability of the cervical vertebrae could be unmasked by IV ERT as joint storage is reduced, and the decrease in neck stiffness and stability could confound the expected improvement of SCC manifestations following IT ERT. The study of further patients, if possible in a clinical trial setting, is needed to evaluate the potential of a non-surgical IT ERT treatment of SCC for MPS VI.
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PMID:Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. 2003 75

We report a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression. Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline missense mutation of SMARCB1, acquired loss of 22q including SMARCB1 and NF2 and mutation of the remaining NF2 wild-type allele-thus completing the four-hit, three-event mechanism associated with schwannomatosis. Variations in five genes have been associated with the Coffin-Siris phenotype: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1. Of these genes, SMARCB1 has a well-established association with schwannomatosis and malignancy. This is the first report of a patient with a constitutional missense mutation of SMARCB1 resulting in CSS and subsequent development of schwannomatosis. This finding demonstrates that a SMARCB1 mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) mutations may be at increased risk for tumors.
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PMID:Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. 2636 1

Premature infants with severe germinal matrix intraventricular hemorrhage (IVH) are at high risk of posthemorrhagic ventricular dilation and hydrocephalus (Video 1). We report the case of a 3-month-old premature infant referred for posthemorrhagic multilocated hydrocephalus. He presented with somnolence, hypotonia, and a bulging fontanelle. His past medical history included an IVH grade III with hydrocephalus initially treated by temporary ventriculosubgaleal shunting. Magnetic resonance imaging (MRI) showed persistent hydrocephalus associated to a cyst extending anteriorly from the mesencephalon to the posterior wall of the sixth cervical vertebra, causing severe brainstem and spinal cord compression. A two-step surgery was performed, consisting of an endoscopic procedure and a ventriculo peritoneal shunt placement, to achieve hydrocephalus treatment and cyst fenestration. A right transfontanellar approach with the head flexed was chosen, using a straight 30-degree endoscope. The procedure and surgical technique are explained in a step-by-step fashion in the original conditions. A large unique fenestration was performed with no postoperative complications and improvement of the neurological status. One month later the patient presented again with symptomatic intracranial hypertension with compatible clinical and imagery findings. MRI showed cyst recurrence and hydrocephalus. We therefore revised our strategy and performed an additional procedure, which is detailed in the second part of the video (Part II: Success of Multiple Fenestrations). Our report underlines the high risk of recurrence of such cysts in post-hemorrhagic arachnoiditis. Cyst recurrence may be explained by the absence of crossing flow when a unique perforation is made.
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PMID:Endoscopic Transfontanellar Approach of a Cyst Anterior to the Brainstem Crossing the Foramen Magnum-Part I: Failure of Unique Fenestration: 2-Dimensional Operative Video. 3322 46