Cases reported "Hypokinesia"

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1/41. Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.

    Two sibs are reported with severe developmental retardation combined with the clinical triad of camptodactyly, whistling face and Pierre Robin sequence as clinical signs of fetal hypokinesia. In spite of tracheotomy, the first child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. At 15 months of age psychomotor development is severely impaired, birth and length are delayed. ( info)

2/41. Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

    BACKGROUND: tyrosine hydroxylase (TH) catalyzes the rate-limiting step in the biosynthesis of the catecholamines dopamine, norepinephrine, and epinephrine. Recently, mutations were identified in cases of autosomal recessive dopa-responsive dystonia and infantile parkinsonism. We describe a patient with severe symptoms and a new missense mutation in TH. methods: Relevant metabolites in urine and cerebrospinal fluid were measured by HPLC with fluorometric and electrochemical detection. All exons of the TH gene were amplified by PCR and subjected to single-strand conformation polymorphism analysis. Amplimers displaying aberrant migration patterns were analyzed by dna sequence analysis. RESULTS: The patient presented with severe axial hypotonia, hypokinesia, reduced facial mimicry, ptosis, and oculogyric crises from infancy. The major metabolite of dopamine, homovanillic acid, was undetectable in the patient's cerebrospinal fluid. A low dose of L-dopa produced substantial biochemical but limited clinical improvement. dna sequencing revealed a homozygous 1076G-->T missense mutation in exon 10 of the TH gene. The mutation was confirmed with restriction enzyme analysis. It was not present in 100 control alleles. Secondary structure prediction based on Chou-Fasman calculations showed an abnormal secondary structure of the mutant protein. CONCLUSIONS: We describe a new missense mutation (1076G-->T, C359F) in the TH gene. The transversion is present in all known splice variants of the enzyme. It produces more severe clinical and biochemical manifestations than previously described in TH-deficient cases. Our findings extend the clinical and the biochemical phenotype of genetically demonstrated TH deficiency. ( info)

3/41. Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling.

    The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We report a boy with a phenotype mostly resembling the condition named Marden-Walker syndrome, with many of the criteria proposed for diagnosing this particular phenotype. In addition he had hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna and vertebral abnormalities. During pregnancy there were reduced fetal movements. In the present patient the fetal hypokinesia sequence, due to central nervous system malformation, is most compatible with the diagnosis of Marden-Walker syndrome. The etiology is probably heterogeneous, but the possibility of autosomal recessive inheritance should be considered in genetic counseling. ( info)

4/41. Reduction of dyskinesia and induction of akinesia induced by morphine in two parkinsonian patients with severe sciatica.

    In two patients with Parkinson's disease and L-Dopa induced dyskinesia we administered morphine orally to alleviate lumboradicular pain unresponsive to any other form of treatment. Besides an alleviation of the pain both patients showed a decrease in dyskinetic movements at very low doses of morphine and an increase in akinesia at higher doses. This observation indicates a modulation of basal ganglia output by morphine with the possibility of reducing L-Dopa induced dyskinesia in patients treated with morphine for pain. ( info)

5/41. Akathisia masked by hypokinesia.

    Here, we will discuss the concept of subjective akathisia and present a patient case. Our patient was suffering from neuroleptic-induced hypokinesia and akathisia at the same time. The typical motor manifestations of akathisia were masked by hypokinesia, which made the diagnosis difficult. However, the subjective symptoms of akathisia were evident and distressing. Although not observable to bare eye, the pathognomonic pattern of motor activity detected in akathisia was demonstrated by actometric recording. Changing the conventional neuroleptic to an atypical one brought relief to the subjective symptoms of akathisia and hypokinesia, while the motor activity was clearly diminished in actometric recording. Actometric recording may be useful in diagnosing akathisia masked by hypokinesia, but the typical subjective symptoms of akathisia should not be ignored, even when actometry is not available to demonstrate the missing motor component of akathisia. Not only akathisia defined by DSM-IV but also subjective akathisia should be adequately treated to relieve the subjective distress, and to diminish the unfavorable effects on psychotic symptoms, behavior, and drug compliance. ( info)

6/41. The Rolex sign: first manifestation of Parkinson's disease: case report.

    We describe a patient whose initial manifestation of Parkinson's disease was a malfunctioning of a self-winding wristwatch secondary to bradykinesia of his left arm. Andrade and Ferraz reported this sign in 1996, suggesting that it be called the Rolex sign. ( info)

7/41. L-dopa-resistant parkinsonism syndrome following cerebral radiation therapy for neoplasm.

    A bradykinetic form of parkinsonism, unresponsive to levo-dopa therapy developed in four patients two to eight weeks after completion of external beam irradiation (39.2 Gy to 59.4 Gy) of their intracranial neoplasm. In the absence of other causative factors, we relate the movement disorder to radiation-induced changes within the basal ganglia. At post-mortem examination one patient had putamenal gliosis and thickened vessels with loss of nigral neurons. ( info)

8/41. Involuntary movements after anterior cerebral artery territory infarction.

    BACKGROUND AND PURPOSE: patients with anterior cerebral artery territory infarction presenting with involuntary movements have rarely been described in the literature. CASE DESCRIPTIONS: The author reports 9 such patients: 3 with asterixis, 5 with hemiparkinsonism (tremor, rigidity, hypokinesia), and 1 with both. Asterixis developed in the acute stage in patients with minimal arm weakness, whereas parkinsonism was usually observed after the motor dysfunction improved in patients with initially severe limb weakness. Asterixis correlated with small lesions preferentially involving the prefrontal area; parkinsonism is related to relatively large lesions involving the supplementary motor area. CONCLUSIONS: anterior cerebral artery territory infarction should be included in the differential diagnosis of asterixis and hemiparkinsonism. ( info)

9/41. First-trimester increased nuchal translucency and fetal hypokinesia associated with zellweger syndrome.

    We report the prenatal detection of increased nuchal translucency and decreased fetal movements, at 11 weeks of gestation, in a fetus at risk for zellweger syndrome. The diagnosis of zellweger syndrome was confirmed by metabolic studies on cultured chorionic villus sampling (CVS) cells and the pregnancy was terminated. The couple's subsequent pregnancy was monitored using the same method. In this pregnancy the nuchal translucency measured at 12 weeks' gestation was normal, the fetus was active, and biochemical studies using CVS and amniocentesis confirmed normal results. We believe this to be the first reported case of zellweger syndrome followed prenatally in which an increased nuchal translucency and fetal hypokinesia were detected in the first trimester. During the pregnancy with the affected child the maternal serum screen (MSS) showed low estriol level. We believe this to be the second report of a low estriol level on MSS in a pregnancy affected with zellweger syndrome. ( info)

10/41. Low-dose oral etidronate therapy for immobilization hypercalcaemia associated with guillain-barre syndrome.

    A low dose of oral etidronate (3.7 mg kg(-1) d(-1)) was administered for immobilization hypercalcaemia associated with guillain-barre syndrome in a 12-y-old boy. There was a slight increase in osteoblastic bone formation reflected by alkaline phosphatase and in particular bone-specific alkaline phosphatase during the treatment and serum calcium decreased to the normal range within 2 wk. No adverse side effects were observed and the patient's linear growth subsequently progressed. CONCLUSION: A low dose of oral etidronate is safe and effective for treatment of immobilization hypercalcaemia in children, without inhibiting bone formation. ( info)
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