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)

A 22-day-old infant developed infant botulism characterized by profound weakness, hypotonia, respiratory arrest, areflexia, ptosis, pupils that responded poorly to light, and absent gag reflex. Stool examination yielded Clostridium botulinum type B organisms and type B toxin. Electromyography provided rapid diagnostic assistance. With supportive care, reovery was complete. This "new" disease probably is more common than now appreciated.
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PMID:Botulism in infancy. Report of a case. 88 98

Between March 1980 and March 1989 there were six identified cases of infant botulism. The presenting symptoms were predominantly poor feeding, lethargy and constipation, and the presenting signs were predominantly hypotonia, weak gag reflex and respiratory difficulty. All required intensive care and prolonged hospital stays. Recovery was eventually complete in all cases. Infant botulism is an uncommon condition but early recognition with adequate intensive care usually results in complete recovery.
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PMID:Infant botulism: a review in South Australia (1980-89). 846 Nov 74

Nephropathic cystinosis is a genetic disorder in which the amino acid cystine accumulates in lysosomes, resulting in multiorgan dysfunction. Progressive neuromuscular dysfunction, with bulbar and upper extremity weakness, has been described in adults with this disorder. The purpose of the present study was to determine whether there was evidence of early bulbar involvement, suggested by feeding difficulties or oral motor dysfunction in these patients, and whether the feeding and oral motor problems were associated with other evidence of neurologic dysfunction. Twenty-two children and adolescents with nephropathic cystinosis were studied. Parents completed questionnaires on feeding history and oral motor problems. Eighteen patients were given an oral motor examination, and 14 received a complete neurologic examination. The majority of children had a history of feeding difficulties. Seven children required a gastrostomy tube. Abnormalities on oral motor examination included hypotonia, abnormal gag reflex, and throaty or congested voice. Abnormalities on neurologic examination included hypotonia, muscle weakness, gross and fine motor dysfunction, and ataxia. The results indicate that feeding difficulties and oral motor dysfunction are common in children with cystinosis and appear to correlate with the general degree of neurologic dysfunction. Long-term follow-up is necessary to determine whether the early oral motor problems predict the later development of the progressive myopathy observed in adults with cystinosis.
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PMID:Oral motor dysfunction and feeding difficulties in nephropathic cystinosis. 1151 11

We describe a 14-year-old female patient with progressive ponto-bulbar palsy and deafness. The first symptom was present at the age of 9 as a difficulty in walking and then she was stable with mild clumsy walking till 14 year-old. It was noticed that she had rapidly progression gait disorder, hearing loss, difficulty in swallowing and speaking in a period of 2.5 months. Clinically, there were bilateral facial weaknesss, atrophic tongue with fasciculations, poor gag reflex, deafness, axial and appendicular hypotonia, severe muscular weakness involving muscles of neck, shoulder, and upper arms, hands with thenar and hypothenar amyotrophy. Hearing loss was documented by brainstem auditory evoked potentials. Other laboratory investigations, screening tests and imaging studing were normal. These clinical features are consistent with the Brown-Vialetto-van Laere syndrome.
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PMID:Brown-Vialetto-van Laere syndrome; the first Turkish case. 1550 64

A 27-year-old male intravenous drug user presented to the Emergency Department of St James's Hospital with a 1-week history of progressive dysphasia, dysphagia and difficulty 'holding his head up' and 'keeping his eyes open'. He also complained of increasing weakness in his upper limbs, as a result of which he kept dropping things. He was on a methadone program but was using both intravenous heroin and cocaine at the time of presentation. Examination of his motor function revealed generalized hypotonia, hyporeflexia and reduced power in both upper limbs. No sensory loss was observed. Co-ordination was intact. The clinical picture of a proximal symmetrical descending weakness and an absence of sensory loss was suggestive of botulism. Clostridium botulinum is a spore-forming, obligate anaerobe. The three forms of human botulism are food-borne, wound and intestinal. A fourth man-made form is produced from aerosolized botulinum toxin and results in inhalational botulism. A little as 1 g of aerosolized botulinum toxin has the potential to kill 1.5 million people. Toxin is detected in serum or stool specimens in only approximately 46% of clinically diagnosed cases. Treatment involves supportive care and early passive immunization with equine antitoxin. Patients should be regularly assessed for loss of gag and cough reflex, control of oropharyngeal secretions, oxygen saturation, vital capacity and inspiratory force. When respiratory function begins to deteriorate, anticipatory intubation is indicated. Early symptom recognition and early treatment with antitoxin are essential in order to prevent mortality, and to prevent additional cases, it is important to ascertain the presence of similar symptoms in contacts of the patient and local public health officials must be notified as one case may herald an outbreak. Given the continued threat of bioterrorism, the Centre for Disease Control Surveillance System in the United States must also be notified of any cases of botulism.
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PMID:Descending polyneuropathy in an intravenous drug user. 1617 64

Prader-Willi syndrome (PWS) is the most common known syndromic cause of life-threatening obesity, yet few studies have examined the causes of death in PWS. The objective of this study was to examine the contribution of choking leading to mortality in PWS. In 1999, a brief survey was made available from the Prader-Willi Syndrome Association (USA) bereavement program, which documented demographic data and causes of death. Families were subsequently offered the opportunity to fill out a detailed questionnaire and additional forms to release medical records. Demographic information was available on 178 deceased individuals with PWS, and cause of death available on 152 individuals. Fifty-four families completed questionnaires. Of the deceased individuals with completed questionnaires, 34% reported a history of choking. Choking was listed by familial report as the cause of death in 12 (7.9%) of 152 subjects with an average age of 24 years (range 3-52 years; median 22.5 years) at death from choking. Only two of these individuals were less than 8 years of age. The data suggest that risks associated with choking are different in the PWS population compared with others. Potential causes of increased choking in PWS include poor oral/motor coordination, poor gag reflex, hypotonia, hyperphagia, decreased mastication, and voracious feeding habits. We recommend implementation of preventive measures and education for families and group home care providers for all individuals with PWS including the Heimlich maneuver, supervised meals, better food preparation, and diet modification to avoid high-risk choking items.
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PMID:Deaths due to choking in Prader-Willi syndrome. 1703 18

Hypotonia is characterized by reduced resistance to passive range of motion in joints versus weakness, which is a reduction in the maximum muscle power that can be generated. (Dubowitz, 1985; Crawford, 1992; Martin, 2005) Based on strong research evidence, central hypotonia accounts for 60% to 80% of cases of hypotonia, whereas peripheral hypotonia is the cause in about 15% to 30% of cases. Disorders causing hypotonia often are associated with a depressed level of consciousness, predominantly axial weakness, normal strength accompanying the hypotonia, and hyperactive or normal reflexes. (Martin, 2005; Igarashi, 2004; Richer, 2001; Miller, 1992; Crawford, 1992; Bergen, 1985; Dubowitz, 1985) Based on some research evidence, 50% of patients who have hypotonia are diagnosed by history and physical examination alone. (Paro-Panjan, 2004) Based on some research evidence, an appropriate medical and genetic evaluation of hypotonia in infants includes a karyotype, DNA-based diagnostic tests, and cranial imaging. (Battaglia, 2008; Laugel, 2008; Birdi, 2005; Paro-Panjan, 2004; Prasad, 2003; Richer, 2001; Dimario, 1989) Based on strong research evidence, infant botulism should be suspected in an acute or subacute presentation of hypotonia in an infant younger than 6 months of age who has signs and symptoms such as constipation, listlessness, poor feeding, weak cry, and a decreased gag reflex. (Francisco, 2007; Muensterer, 2000)
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PMID:The floppy infant: evaluation of hypotonia. 1972 97

An 8-month old girl, weighing 9 kg, was brought by her parents at 8.15 am to the Emergency Department (ED) for a progressive worsening of weakness and acute respiratory failure. On admission, the baby presented with poor oral intake, a weak cry and extremely weak muscular body control. Poor gag and suck, unreactive mydriasis, hypotonia, lethargy and absence of peristalsis were noted. Laboratory data showed severe respiratory acidosis. Chest X-ray, electroencephalography, encephalic CT scan and MRI were all normal, as were cerebrospinal fluid analysis and viral tests. Orotracheal intubation and continuous mechanical ventilation were applied. The patient received fluids, corticosteroids, aerosol therapy, large-spectrum antibiotics and enteral-nutrition. Further investigation revealed ingestion of an improperly prepared home-canned homogenized turkey meal. Type A botulinum neurotoxin was identified. Trivalent botulinum antitoxin, prostigmine and oral activated charcoal were administered. Generalized flaccid paralysis, areflexic bilateral mydriasis, gastric stasis and deep coma persisted for the duration of the hospital stay, and the patient died of severe respiratory failure and cardiac arrest 12 days after ED admission. Botulism poisoning should be suspected in any infant presenting with feeding difficulties, constipation, descendent paralysis or acute respiratory failure. Supportive treatment and antidotal therapy should be performed as soon as a clinical diagnosis is made. We describe a case of foodborne botulism in an 8-month old infant caused by ingestion of an improperly prepared home-canned homogenized turkey meal, representing the youngest fatal case reported in medical literature.
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PMID:Fatal course of foodborne botulism in an eight-month old infant. 2235 16

We report a case of a 5-year-old boy with acute disseminated encephalomyelitis as the initial presentation of neuroborreliosis. Parents report an upper-airway infection a few days before the development of acute encephalopathy, mild facial palsy, and seizures. The patient needed mechanical ventilation for 10 days, and after extubation, he presented hypotonia, ataxia, dysarthria, as well as weak gag and cough reflexes. Brain magnetic resonance imaging showed hyperintense lesions on T2- and fluid-attenuated inversion recovery sequences on the right subcortical occipital and parietal region, left posterior arm of the internal capsule, and in the medulla oblongata. Borrelia burgdorferi was identified in the plasma and cerebrospinal fluid by polymerase chain reaction and in the plasma by Western blotting. He was treated with ceftriaxone, methylprednisolone, and human immunoglobulin. Recovery was partial.
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PMID:Neuroborreliosis presenting as acute disseminated encephalomyelitis. 2322 6

Walker-Warburg syndrome (WWS) is a disorder characterized by ocular and brain malformations, and congenital muscular dystrophy. Retinal malformations are common in WWS; however, bilateral retinal detachment is a rare occurrence. We present a case of a newborn baby delivered at 36+3 weeks, who was the first living child of consanguineous parents of Turkish origin. On antenatal anomaly scans, the fetus had hydrocephalus that had increased throughout pregnancy, and a diagnosis of hydrancephaly was made at 36 weeks of gestation. Hypotonia, cleft lip and palate, poor suck and absent gag reflex were noted at birth. Ophthalmic examination at the age of 2 days revealed bilateral funnel retinal detachment. B-scan ultrasonography confirmed these findings, and magnetic resonance imaging (MRI) of the brain was performed at the age of 13 days to establish a diagnosis. The MRI showed lissencephaly, hydrocephalus and thin rim of brain parenchyma, with a cobblestone appearance of the cortex and pontine and cerebellar hypoplasia, consistent with the diagnosis of WWS. The infant deteriorated and died at 39 days of age from complications associated with the brain anomalies. In summary, bilateral retinal detachment is extremely rare and in association with hydrocephalus and posterior fossa anomalies strongly suggests the diagnosis of WWS.
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PMID:Bilateral total retinal detachment at birth: a case report of Walker-Warburg syndrome. 2938 18


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