Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Macrophagic myofasciitis (MMF) is a rare, seemingly emerging entity among adult patients in France. We encountered two children with the first two cases of MMF in North America. A 5-year-old male with chronic intestinal pseudo-obstruction required nighttime parenteral nutrition. Abnormal pupillary reflexes and urinary retention suggested a diffuse dysautonomia, which prompted a neurological diagnostic work-up. A 3-year-old child had developmental delay and hypotonia. Both children received age-appropriate immunizations. Quadriceps muscle biopsy from each child showed the typical patchy, cohesive centripetal infiltration of alpha-1-antitrypsin+, alpha-1-antichymotrypsin+, CD68+, PAS+, CD1a-, S-100-, factor XIII- granular macrophages with adjacent myofiber atrophy, dilated blood vessels, and mild endomysial and perimysial fibrosis. No myonecrosis was observed and no discrete granulomas were seen. A single aluminum peak was demonstrated on energy dispersive X-ray microanalysis. The etiology of the clinical symptoms in these cases and in cases reported as MMF remains intriguing. Despite numerous stains to demonstrate organisms, most infectious causes leading to macrophage activation were ruled out. These cases are being reported to increase awareness of this condition and to encourage a systematic epidemiologic and clinicopathologic study in North America.
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PMID:Aluminum phagocytosis in quadriceps muscle following vaccination in children: relationship to macrophagic myofasciitis. 1191 May 9

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 siblings from a consanguineous marriage presented with similar clinical features over 16 years. STWS was established with their last child at the beginning of 2012. All the children exhibited the onset of STWS in the neonatal period with fever and generalised hypotonia. Examinations of all the infants revealed camptodactyly, micrognathia, bent long bones with wide metaphyses, and hypotonia. Only the second affected child had myotonia, demonstrated by electromyography. Unusual pyrexia as a presenting feature in this syndrome needs early recognition so that extensive and elaborate investigations can be avoided. The disorder is usually caused by a mutation in the leukaemia inhibitory factor receptor gene.
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PMID:One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome. 2386 38

Mitochondrial disease (MD) represents a category of metabolic disorders with a wide range of symptoms across a variety of organ systems. It occurs with an incidence of greater than 1:5000 and can be difficult to specifically diagnose because of the variety of clinical presentations and multiple genomic origins. Although phenotypically variable, MD symptoms often include hypotonia, cardiac defects, dysautonomia, and metabolic dysfunction. Mitochondrial disease presents a unique challenge in terms of anesthetic management, as many anesthetic drugs suppress mitochondrial function. Additional considerations may need to be made in order to evaluate the patient's metabolic compensation prior to surgery. This article presents an in-depth discussion of a case involving a nearly 10-year-old boy with a history of an unspecified form of MD, who presented for endodontic treatment of tooth No. 30 under deep sedation. The article also provides a thorough review of the current literature surrounding the anesthetic management of patients with MD.
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PMID:Anesthetic Management of a Child With Unspecified Mitochondrial Disease in an Outpatient Dental Setting. 2812 56

Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of the prolyl 4-hydroxylases (P4Hs) family of enzymes. We report seven patients from four new families in whom HIDEA was only diagnosed after whole-exome sequencing (WES) revealed novel disease-causing variants in P4HTM. We note the variable phenotypic expressivity of the syndrome except for cognitive impairment/developmental delay, and hypotonia, which seem to be consistent findings. One patient only presented with hypotonia, developmental delay, and abnormal eye movements, which highlights the challenge in diagnosing milder cases with this new syndrome. Other notable features include mild facial dysmorphism, obesity, and brain dysmyelination and atrophy. We conclude that HIDEA is a highly variable syndrome and suspect that a large fraction of patients will be diagnosed via reverse phenotyping after recessive P4HTM variants are identified by agnostic genomic sequencing assays.
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PMID:Further delineation of HIDEA syndrome. 3296 80