muscle hypotonia/fiabhras

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Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup

[Pathogenesis of bradycardia and hypotonia in relapsing fever].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Hyperthermia under anesthesia with regional muscle flaccidity.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

In a newborn boy with characteristics of Brachmann-de Lange syndrome (BDLS) high temperatures were observed on the second day after birth and recurred 2-6 times daily during the 7 months of the patient's life. After transient hypertonia hypotonia developed. In muscle biopsy specimen taken on the

[Neurological complications of Argentinian hemorrhagic fever].

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Logáil Isteach / Cláraigh

The Argentine hemorrhagic fever (AHF) is an infectious disease, endemo-epidemical, of viral etiology, produced by the Junin virus and limited to the Buenos Aires Province, South of Córdoba, East of La Pampa, and South of Santa Fe. It generally assails rural workers at harvest-time, especially during

Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indicating the relevance of this pathway to

Mitochondrial myopathies: an unusual cause of hypotonia in infants and children.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Children frequently undergo muscle biopsy for the workup of hypotonia under general anaesthesia which poses unique risks in patients with undiagnosed muscle disease. Mitochondrial myopathies are a relatively newly recognized cause of myopathy and multisystem disease in both adults and children. The

Severe Multiorgan Failure Following Yellow Fever Vaccination

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Logáil Isteach / Cláraigh

Background: The yellow fever (YF) vaccination is recommended by the WHO for people traveling or living in endemic areas at risk for yellow fever infections in Africa and South America. Although the live attenuated yellow fever vaccine is

Severe infantile hypotonia with ethylmalonic aciduria: case report.

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Logáil Isteach / Cláraigh

An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant

[The effect of the early treatment of patients with hemorrhagic fever with renal syndrome on the further course of the disease].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

173 case records have been analyzed to specify the role of early therapy (antipyretics, antibiotics, sulphanilamide drugs) on further development of hemorrhagic fever with renal syndrome. Early treatment of the above patients was found uneffective and not safe as to possible complications, for

Bilateral middle cerebral artery thromboembolic occlusion. Could maternal hyperthermia be a detrimental factor?

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

We describe a six-month-old girl with microcephaly, developmental delay, truncal hypotonia, left pyramidal signs, partial seizures and myoclonic spasms, born to a feverish mother. MRI showed bilateral vascular lesions in the territory of the middle cerebral arteries, prevalent in the right

[Mediterranean boutonneuse fever disclosed by severe neurological involvement].

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

The authors report a case of mediterranean boutonneuse fever disclosed in a 6 year-old child presenting with severe neurological disorder, coma, hypotonia, sphincteral disorders, rash and eschar at the site of bite. Rise of antibodies detected by indirect immunofluorescence test (1/80----1/320)

One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.

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Logáil Isteach / Cláraigh

Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three

Reverse Shapiro's syndrome--an unusual cause of fever of unknown origin.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Reverse Shapiro's syndrome was first described by Hirayama et al. in a girl with periodic hyperthermia associated with complete agenesis of the corpus callosum. Here we report another such case in a 9-month-old girl presenting with fever of unknown origin since the age of 7 months. On examination,

Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, fever, vomiting, dehydration and failure to thrive. However, in infancy polyuria may be absent because of dehydration and reduced glomerular filtration rate. In 2 cases the main presenting feature was hypotonia, with marked

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