muscle hypotonia/hnačka

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Chronic Diarrhea in L-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients.

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Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and extraneurological symptoms. METHODS We present a

Congenital chloride diarrhea: a review of twelve Arabian children.

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BACKGROUND Congenital chloride diarrhea (CCD), a rare autosomal recessive disorder, is characterized by sustained watery diarrhea (due to defect of active Chloride/HCO3 exchange in the ileum and colon) with high fecal chloride. OBJECTIVE To spotlight the common presentation of CCD for early

Early severe infantile botulism.

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Two neonates with a history of diarrhea, abrupt apnea, and suspected sepsis were proved to have infantile botulism. Initial symptoms in both infants suggested other diagnoses. Electrophysiologic studies were important in confirming the diagnosis. Early severe infantile botulism may be rare but

Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.

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To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS).

Thyroid Storm, a Mimicker of Guillain-Barre Syndrome: A Case Report

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A 60-year-old woman with diabetes mellitus presented to the emergency department (ER) with complaints of lower limb weakness, preceded by diarrhea. She complained of sweating and palpitations. There was no fever, cough, trauma, seizures, or headache. There was global weakness in all four limbs with

Identification by next-generation sequencing of Aichivirus B in a calf with enterocolitis and neurologic signs.

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An 11-d-old Holstein bull calf was presented to the Veterinary Medical Teaching Hospital at the University of Wisconsin-Madison because of a 4-d history of diarrhea and persistent low-grade fever. Initial diagnosis was enteritis caused by Cryptosporidium and rotavirus. During hospitalization, the

[Unusual case of food protein-induced enterocolitis syndrome].

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Food protein-induced enterocolitis syndrome is a nonimmunoglobulin E mediated gastrointestinal food hypersensitivity that manifests as profuse, repetitive vomiting, pallor and hypotonia, often with diarrhea leading to severe dehydration and lethargy (sepsis-like symptoms) in the acute setting. An

Phlebovirus meningoencephalis complicated by Pseudomonas aeruginosa pneumonia: a case report.

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In June 2004 an 8-year-old boy was admitted to a hospital in Thessaloniki, Greece, because of high fever, tachypnea, hypotonia, diarrhea, and tonoclonic convulsions. Phlebovirus infection was diagnosed by IgG seroconversion to Toscana virus. As IgM antibodies were not detected, it is suggested that

Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate.

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Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We

Severe Multiorgan Failure Following Yellow Fever Vaccination

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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

Infantile systemic hyalinosis: report of four cases of a disease, fatal in infancy, apparently different from juvenile systemic hyalinosis.

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Four female Mexican-American infants, two siblings, had widespread deposit of hyaline material in skin, gastrointestinal tract, adrenals, urinary bladder, ovaries, skeletal muscles, thymus, parathyroids, and other loci. Clinical features included thickness and focal nodularity of skin, relatively

Ethylmalonic encephalopathy. Another patient from Kuwait.

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We report a Kuwaiti girl with ethylmalonic encephalopathy. She presented at the age of 4 months with chronic mucoid diarrhea and delayed psychomotor development, and at 6 months she developed myoclonic epilepsy. She was found to have central hypotonia with pyramidal tract signs, acrocyanosis, and

Severe nutritional deficiencies in toddlers resulting from health food milk alternatives.

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It is widely appreciated that health food beverages are not appropriate for infants. Because of continued growth, children beyond infancy remain susceptible to nutritional disorders. We report on 2 cases of severe nutritional deficiency caused by consumption of health food beverages. In both cases,

Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature

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Objectives Transcobalamin II (TC) is an essential plasma protein for the absorption, transportation, and cellular uptake of cobalamin. TC deficiency presents in the first year of life with failure to thrive, hypotonia, lethargy, diarrhea, pallor, mucosal ulceration, anemia, pancytopenia, and

[Amanita pantherina poisoning or brain stroke?].

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A case of a 72-year-old female who ingested panther cap (Amanita pantherina) was presented. During the ingestion of mushrooms she developed short-time diarrhea and severe transient neurological disorders; short-term hallucination followed by deep coma, skeletal muscle flaccidity with hyporeflexia.

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