Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 33-month-old boy with recurrent stroke-like episodes had angiographic features characteristic of moyamoya syndrome. Mitochondrial encephalomyopathy was suspected because of lactic acidosis and ptosis. Studies of oxidative metabolism on isolated skeletal muscle mitochondria revealed impairment of NADH-coenzyme Q reductase activity. Mitochondrial metabolic disorders may cause moyamoya syndrome when other known associated factors are absent.
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PMID:Impaired NADH-CoQ reductase activity in a child with moyamoya syndrome. 314 83

We reported a patient with cardio-facio-cutaneous (CFC) syndrome associated with moyamoya syndrome. The patient was referred at 6 years 5 months with left hemiplegia and right-sided eye deviation. He had an apparently short stature, macrocephaly, left ptosis and atopic skin, and was odd looking. He exhibited an incomplete right bundle branch block on electrocardiogram and an atrial septal defect on ultrasound cardiography. He was diagnosed as having CFC syndrome. Head magnetic resonance imaging showed a flow void in the bilateral basal ganglia, but did not show any ischemic changes. Magnetic resonance angiography showed bilateral stenosis with an internal carotid artery at the Willis artery ring level and bilateral moyamoya. Contrast angiography demonstrated occlusion of both middle cerebral arteries. Cerebrovascular anomalies have not previously been reported in CFC syndrome. This is the first case of CFC syndrome associated with moyamoya syndrome.
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PMID:Cardio-facio-cutaneous syndrome and moyamoya syndrome. 1201 68

This report describes a patient with Costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. Brain magnetic resonance imaging and cerebral angiography revealed moyamoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with Costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients.
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PMID:Costello syndrome showing moyamoya-like vasculopathy. 1586 41

MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear.
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PMID:Progressive cerebral vascular degeneration with mitochondrial encephalopathy. 1820 88

Headache associated with moyamoya disease (HAMD) is common in moyamoya disease. However, the characteristics and classification of HAMD are largely unknown. We present a case of a 39-year-old woman with HAMD. To characterize and classify the features of this syndrome, the patient was asked to complete a 4-month diagnostic headache diary. There was a total of 15 ictal days. All episodes were without aura. The headache was more commonly pressing (10/15), mild to moderate in severity (14/15), unchanged by physical activity (11/15), and associated with photophobia (10/15). The International Headache Society Classification was utilized to determine that eight episodes met criteria for probable migraine without aura, while seven episodes met criteria for probable frequent episodic tension-type headache. We identified four other case reports of HAMD with partial descriptions of the characteristics. When combined with our patient, the median age was 34 years old (range 6-49, SD 16). Four were female, while the patient with cluster headache was male. The median time from headache onset to diagnosis with moyamoya disease was 9.5 months (range 0-192, SD 88.0). Headaches were described as migraine with aura in two of five cases, hemiplegic migraine in one of five, and cluster headache in one of five. The highest intensity was described as severe in three of three cases, in which headache intensity was reported. Meanwhile, nausea, vomiting, and photophobia were present in two of three cases, where these features were reported, while nausea without vomiting was seen in one of three cases. In all five cases, patients had other neurological symptoms, such as paresis, seizures, visual disturbances, dysarthria, allodynia, ptosis, and unilateral restless leg syndrome. In conclusion, HAMD can present as migraine without aura. It can be the first presenting symptom of moyamoya disease. The headache features are not diagnostic; hence, early neurovascular imaging should be considered in patients with new onset, refractory migraine-like headache, especially in the setting of other neurological symptoms to exclude underlying moyamoya disease. Further reports using headache diaries are needed to better characterize HAMD as well as to determine whether headache with tension-type features is also part of this condition.
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PMID:Headache associated with moyamoya disease: a case story and literature review. 2001 51

This 33-year-old man presented with hemorrhagic stroke manifesting with left hemiparesis and right ptosis. Angiography revealed no patent carotids. The anterior and middle cerebral arteries were filling collaterally through the posterior vertebrobasilar pathway. The presumptive diagnosis was moyamoya disease. The etiology of the bleeding was right basilar tip aneurysm that subsequently had partial coil placement. Months later, the neck of the aneurysm perforated and second coiling was performed. Later on follow-up, patient developed left hand tremor. A radionuclide DATscan revealed total absence of right-sided basal ganglia activity. A possible etiology was occlusion of the middle cerebral artery's lenticulostriate branches.
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PMID:Unilateral Absence of the Basal Ganglia on 123I-Ioflupane DaTScan. 3134 84