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)

Prader-Willi syndrome described in 1956 has a genetic origin, affecting both genders, varying in presence and intensity from individual to individual. A precocious diagnosis, before the manifestation of symptoms, has brought some improvement in the quality of life of the carriers in the last years. The objective of this case report was to describe the treatment realized in a 3-year-old boy who presented grade II obesity, difficulty of locomotion, hypotonia, and history of cardiopathy. A dental treatment under general anesthesia was defined, allowing an oral adequation in a single section, in which it was planned the extraction of the element 74 and atraumatic restorative treatment (ART) technique in the other teeth. The precocious intervention in this 3-year-old patient by the therapy realized with ART under general anesthesia was done with success, avoiding unnecessary extractions, preserving dental elements, and maintaining the oral cavity in adequate function.
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PMID:Special Care Dentistry in a Patient with Prader-Willi Syndrome through the Use of Atraumatic Restorative Treatment under General Anesthesia. 2931 56

A 15-year-old boy with X-linked myotubular myopathy associated with severe hypotonia and pectus excavatum presented for posterior spinal fusion of T2-sacrum because of rest pain and severe progressive neuromuscular scoliosis. Previously, he experienced 2 separate instances of cardiac arrest after prone positioning under general anesthesia. A preoperative computed topography angiogram in the supine and prone positions revealed inferior vena cava and right ventricular outflow tract obstruction on prone positioning. Successful positioning and posterior spinal fusion occurred by staging the procedure, correction of volume status, early use of vasoactive and inotropic agents, and oblique prone positioning.
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PMID:Successful Management of a Patient With X-Linked Myotubular Myopathy for Scoliosis Surgery and Previous Cardiac Arrest After Prone Positioning: A Case Report. 2963 67

Congenital fibre type disproportion (CFTD) is a rare type of myopathy that is characterised by muscle weakness and hypotonia during childhood. Clinical features include motor delay, feeding difficulties, limb weakness, joint contractures, and scoliosis. A report is presented of the anaesthetic management of a 3-year-old girl with CFTD myopathy associated with a mutation of the TPM3 gene, scheduled for adenotonsillectomy because of obstructive sleep apnoea hypopnoea syndrome (OSAHS). The main concerns were the possible susceptibility to malignant hyperthermia, the risk of anaesthesia-induced rhabdomyolysis, a greater sensitivity to non-depolarising muscle relaxants, and the presence of OSAHS. Total intravenous anaesthesia with propofol and the use of rocuronium/sugammadex appear to be safe options. Given the high risk of respiratory compromise and other complications, patients should be closely monitored in the post-operative period.
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PMID:Anaesthetic management of a paediatric patient with congenital fibre type disproportion myopathy. 3041 84

Merosin-deficient congenital muscular dystrophy (MD-CMD) is the most common and severe form of congenital muscular dystrophy and is characterized by progressive severe hypotonia due to the absence of the merosin chain around muscle fibers. The main anesthetic concerns include a possible association with malignant hyperthermia, the risk of anesthesia-induced rhabdomyolysis, a difficult airway and postoperative respiratory failure. We report the case of an uneventful general anesthesia (GA) in a two-year-old boy with MD-CMD for the placement of an implantable venous access system. The goal of our anesthetic management was to reduce the risk of respiratory depression. We considered the possibility of loss of spontaneous ventilation against the known, but rare, risk of rhabdomyolysis and we choose for a balanced GA with sevoflurane, short acting opioids and a pressure support ventilation mode instead of a trigger-free anesthesia. Our anesthetic management and the perioperative concerns for this particular syndrome are described.
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PMID:Pressure-support ventilation in a child with merosin-deficient congenital muscular dystrophy under sevoflurane anesthesia. 2987 69

Uterine inversion is a rare but potentially serious complication of labour characterized by "glove-finger" introflexion of the uterine body protruding into the vagina or out of the vulva. This disease commonly occurs just after delivery and it is characterized by severe pain associated with hemorrhagic shock. The diagnosis is essentially based on clinical examination and must be immediate in order to allow quick reinversion before the formation of a constriction ring. Mortality rate is low if patients are early diagnosed and treated. Uterine inversion does not seem to affect the obstetrical prognosis. Contributing factors mainly include uterine hypotonia associated with fundal placenta causing depression of the uterine fundus in case of inappropriate maneuvers (pulling on the umbilical cord, uterine expression). Reinversion should be quick associated with resuscitation measures (shock resuscitation). It is based on several manual methods consisting of returning the uterus after possible muscle relaxants treatment (nitrated derivatives, betamimetics and general anesthesia). Failure results in surgical treatment using high or low approach. We report the case of total uterine reinversion during delivery by cesarean section.
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PMID:[Uterine inversion: about a case]. 2987 80

We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were no similar cases in the family and among close relatives. MRI study confirmed rhombencephalosynapsis (fusion of cerebellar hemispheres in combination with the agenesis of cerebellar vermis) and mild dilation of the lateral ventricles. Other main findings are bilateral parieto-temporal alopecia and brachiturricephaly (broad skull shape and tower-like elongation of the cranium in the vertical axis), low-set posteriorly retracted ears, strabismus (in the right eye), hypotonia (Beighton scale score - 6) and ataxia (trouble maintaining balance). Patient has no signs of trigeminal anesthesia, no recurrent, painless eye infections, corneal opacities and ulcerated wounds on the facial skin and buccal mucosa were observed. Based on the scientific literature we suggest a finding of brachiturricephaly in addition to rhombencephalosynapsis and bilateral alopecia sufficient to put a diagnosis of GLHS. Patient did not speak, disregarded guardians and clinician addressing him, did not make eye contact, was restless and occasionally displayed aggression and self-injurious behavior. These symptoms confirm the earlier diagnosis of Autism Spectrum Disorder (ASD). Therefore, the current study describes a case of co-occurrence of GLHS and ASD.
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PMID:Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature. 3018 40

X-linked adrenoleukodystrophy (X-ALD) belongs to a family of rare diseases due to inborn errors of metabolism. It has a wide spectrum of clinical manifestations that anaesthesiologists should recognise during the perioperative period (respiratory centre dysfunction, hypotonia, adrenal or hepatic failure, gastroesophageal reflux disease, osteopenia, seizures).The case is presented of a 42-year-old X-linked adrenoleukodystrophy female carrier, who underwent combined general and an ultrasound-guided interscalene brachial plexus block anaesthesia for shoulder arthroscopy. Induction was performed with thiopentone and fentanyl, and sevoflurane was used as inhaled maintenance agent. No events were recorded during the procedure. Her post-operative recovery was satisfactory and she was later discharged home.
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PMID:Perioperative management of a female diagnosed with heterozygous X-linked adrenoleukodystrophy scheduled for shoulder arthroscopy. 3044 97

We herein describe the successful anesthetic management of a patient with stiff person syndrome undergoing right total hip replacement under spinal anesthesia. We also describe the problems associated with general anesthesia. The advantage of using regional anesthesia in these patients is the avoidance of muscle relaxants. The use of general anesthesia carries the risk of hypotonia in stiff person syndrome postoperatively due to enhancement of γ aminobutyric acid (GABA) action on synaptic transmission by drugs that have a γ GABA agonistic action.
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PMID:Successful Anesthetic Management of Patient with Stiff Person Syndrome. 3050 37

Lowe syndrome (the oculo-cerebro-renal syndrome of Lowe, OCRL) is a multi-system disorder that affects the eyes, nervous system, and kidney. OCRL is a rare X-linked recessive disease with a prevalence of approximately 1 : 500,000. The clinical features of OCRL include congenital cataracts, growth and mental retardation, areflexia, hypotonia, and renal tubular dysfunction (Fanconi-type). Chronic metabolic acidosis and hypotonia may be the most important component affecting management of the peri-anesthetic period during general anesthesia. However, problems such as electrolyte imbalance, seizure, fragility of the bone structures, and increased intraocular pressure should also be considered during the perioperative period. We report here the perioperative management of a patient with Lowe syndrome during the removal of multiple scalp cysts under general anesthesia.
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PMID:The perioperative management of a patient with lowe syndrome for general anesthesia: A case report. 3062 6

Prader-Willi syndrome is a genetic disorder characterized by infantile hypotonia, childhood obesity, characteristic facial appearance, mental retardation, hypogonadism and short stature. It is described as a 2-stage disorder with an infantile hypotonic phase, followed by a childhood obese phase. The first phase, during the newborn and infancy period, is characterized by marked hypotonia, poor sucking, swallowing, coughing, crying, and episodes of asphyxia. Since these signs of poor strength cause poor reversal in the postoperative period, muscle relaxants should be used cautiously, especially in patients in the first phase of the syndrome. We experienced the anesthetic management of a 5-month-old female patient with Prader-Willi syndrome under general anesthesia, without muscle relaxant for excision of BCG lymphadenitis and a preauricular mass.
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PMID:Anesthetic management in a pediatric patient with infantile phase Prader-Willi Syndrome: A case report. 3062 70


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