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cachexia/epileptischer anfall
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A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
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We studied three siblings, born to consanguineous parents who presented with severe intellectual disability, cachexia, strabismus, seizures and episodes of abnormal respiratory rhythm. Whole exome sequencing led to identification of a novel homozygous splice site mutation, IVS29-1G > A in the NALCN
Abdominal lymphomas, convulsive seizure and coma: a case of successfully treated, advanced Whipple's disease with cerebral involvement.
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Whipple's disease is a rare, generalized inflammatory disorder due to the recently described bacterium Tropheryma whippelii. We report an unusual, successfully treated case of a 32-year-old woman, who presented with a 25 month history of large abdominal lymphomas, polyserositis and cachexia. The
Farber's disease (lysosomal acid ceramidase deficiency).
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The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.
A severe case of systemic lupus erythematosus with cerebral involvement.
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We describe an 18-year-old girl who presented with severe systemic lupus erythematosus with multiple organ involvement. The disease was further complicated by recurrent seizures and intracerebral left parieto-occipital bleeding that required neurosurgical treatment. Postoperative rebleeding occurred
[Pseudo-tumoral form of delayed radionecrosis of the brain].
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A 60 year-old woman with a scalp epithelioma underwent radiotherapy, the dose being 57 Gray. A first epileptic seizure occurred twenty months later. Neurological examination revealed signs of left hemisphere involvement. gamma EG, angiography, CT scans, demonstrated a pseudotumoral avascular
[Epilepsy with myoclonic-astatic attacks (Lennox-Gastaut syndrome) with particularly unfavorable course].
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Out of over 100 children with the Lennox-Gastaut syndrome observed in the Outpatient Clinic and Department of Paediatric Neurology, Children's Health Center the authors present 6 cases in which the course of the disease was progressive and devastating. The main signs were astatic-myoclonic and
Prominent white matter cavitation in an infant with Alexander's disease.
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The clinical history and autopsy findings are reported on a case of infantile Alexander's disease (AD). The patient, a white baby girl, developed seizures at age 4 months accompanied by internal hydrocephalus. She died at age 11 months following a progressive, downhill course of profound psychomotor
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
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Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. It is caused by mutations in the NALCN gene that encodes a voltage-independent, cation channel permeable to NM, K+ and
Cutaneous manifestations of Strongyloides stercoralis hyperinfection in an HIV-seropositive patient.
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A 41-year-old human immunodeficiency virus (HIV)-positive man was hospitalized with complaints of a 4-week history of nausea and vomiting, associated with decreased oral intake, and a 4-day history of frontal headache and fever. His medical history was significant for a gunshot wound to the head 3
Pilot of a Pediatric Palliative Care Early Intervention Instrument.
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Current research demonstrates that pediatric symptom management care is often initiated in the late stages of disease once clinicians are no longer able to meaningfully impact symptom burden. Given that physicians or nurse practitioners are responsible for initiating palliative care referrals, it is
Respiratory syncytial virus infection in children with neuromuscular impairment.
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Clinically obvious reasons why children with neurological impairment (NMI) may be more severely affected in case of a viral respiratory tract infection include reduced vital capacity due to muscular weakness or spastic scoliosis, disturbed clearance of respiratory excretions (weak coughing and
Toxic effects of oral hexahydro-1,3,5-trinitro-1,3,5-triazine in the western fence lizard (Sceloporus occidentalis).
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Hexahydro-1,3,5-trinitro-1,3,5-triazine (RDX) has been widely used as an explosive in munition formulations, resulting in contamination of wildlife habitat on military installations. To estimate health effects for reptilian species, acute, subacute, and subchronic oral toxicity studies were
Neuropeptide Y (NPY) family of hormones: progress in the development of receptor selective agonists and antagonists.
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Neuropeptide Y (NPY), the most abundant peptide present in the mammalian brain, exhibits a wide spectrum of central and peripheral activities mediated by at least six G-protein coupled receptors. The latter observation, and the implication of NPY in the pathophysiology of feeding, seizures,
Craniocerebral metastases from a supraglottic squamous cell carcinoma: A case report and literature review.
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Craniocerebral metastases as the initial spread of supraglottic squamous cell carcinoma (SCC) are exceptional. The presence of several months' history of dysphagia, dyspnea, cachexia, tobacco/alcohol abuse, and seizure(s) is suspicious of craniocerebral metastases from an advanced-stage supraglottic
Toxicity and neuropharmacology of cyclopiazonic acid.
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Cyclopiazonic acid (CPA) was found to have many pharmacological properties in common with the antipsychotic drugs chlorpromazine and reserpine. Thus, in mice CPA at ip doses of 5-14 mg/kg body weight produced hypokinesia, hypothermia, catalepsy, ptosis, sedation without loss of righting reflex,
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