• Title/Summary/Keyword: Mental retardation

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Surgical Treatment of Supravalvar Aortic Stenosis - A Case Report - (대동맥판상협착증 치험 1례)

  • 이성광
    • Journal of Chest Surgery
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    • v.21 no.4
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    • pp.721-726
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    • 1988
  • Congenital supravalvar aortic stenosis is an obstruction caused by localized or diffuse narrowing of the aortic lumen commencing immediately above the aortic valve. We experienced a case of diffuse supravalvar aortic stenosis involving ascending aorta from just above the sinuses of Valsalva to the proximal l cm of the innominate artery. Supravalvar aortic stenosis in this patient, in contrast to the form seen in infants and children, was not associated with mental retardation, peculiar faces or the syndrome of hypercalcemia. Diagnosis was confirmed by retrograde left heart catheterization and left ventriculography. Surgical correction was performed by the replacement of oval shaped Woven Dacron patch over the narrow segment of aorta under the cardiopulmonary bypass. Blood pressure was controlled sufficiently with some adjunct of Inderal postoperatively. The patient was discharged with much improvement.

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Dyspnea after General Anesthesia in a Patient with Cerebral Palsy -A Case Report- (뇌성마비 환자에서 전신마취 후 나타난 호흡곤란 -증례보고-)

  • Min, Soo-Young;Lee, Jae-Ho;Kang, Jeong-Wan
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.11 no.1
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    • pp.55-60
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    • 2011
  • When patients with cerebral palsy are put under general anesthesia, there may be problems like difficult endotracheal intubation caused by deviation of respiratory tract due to scoliosis, hypotension related to chronic malnutrition and anemia, and failure of ventilation due to deformation of the thoracic cavity. The main clinical problem of postanesthetic complication is hypoxemia. The patients with cerebral palsy need close monitoring during treatment under general anesthesia and postanesthetic management. The purpose of this report is to evaluate a patient with cerebral palsy and mental retardation appeared to have dyspnea after general anesthesia.

Use of Sevoflurane Inhalation Sedation for Disabled Outpatient Dental Treatment (장애환자의 치과진료 시 Sevoflurane 흡입진정의 활용)

  • Doh, Re-Mee;Song, Young-Gyun;You, Tae-Min;Kim, Seung-Oh
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.12 no.2
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    • pp.125-129
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    • 2012
  • Dental treatment under general anesthesia is considered for behavioral control of disabled patients who have severe anxiety or involuntary movement. However, in case of simple treatment, inhalation or intravenous sedation, which has earlier onset and recovery, is preferred. Conventionally, nitric oxide is used for inhalation sedation, nowadays sevoflurane can also be used due to easily titratable for controllable effect and less complications. In this case report, two patients with mental retardation required simple dental treatment. Deep sedation with inhaled sevoflurane were successfully employed and patients were discharged without any complications.

Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome

  • Kim, Ju Young;Park, Sung Sup;Yang, Hye Ran
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.4
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    • pp.392-399
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    • 2019
  • Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing

  • Gill, Inkyu;Kim, Ja Hye;Moon, Jin-Hwa;Kim, Yong Joo;Kim, Nam Su
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.87-91
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    • 2018
  • X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.

Lesch-Nyhan syndrome: a case report

  • Han Ick Park;Gu-Hwan Kim;Kang-Min Ahn
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.49 no.4
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    • pp.228-232
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    • 2023
  • Lesch-Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene. This syndrome is characterized by excessive production of uric acid, mental retardation, self-mutilation, choreoathetosis, and spasticity. The most distinctive symptom is compulsive self-mutilation. For patients with LNS, different methods have been tried to reduce self-biting behaviors including restraints, behavioral treatment, medications, deep brain stimulation, tooth extraction and botulinum toxin A injection. In this report, we present a case of LNS undergoing cheiloplasty due to self-mutilation and tooth extraction of the left deciduous maxillary canine.

Kleefstra syndrome combined with vesicoureteral reflux and rectourethral fistulae: a case report and literature review

  • Chae Won Lee;Min Ji Park;Eun Joo Lee;Sangyoon Lee;Jinyoung Park;Jun Nyung Lee;So Mi Lee;Shin Young Jeong;Min Hyun Cho
    • Childhood Kidney Diseases
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    • v.26 no.2
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    • pp.111-115
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    • 2022
  • Kleefstra syndrome is a rare genetic disease characterized by mental retardation, hypotonia, and a characteristic facial appearance. Furthermore, in some cases, Kleefstra syndrome is associated with various anorectal and genitourinary complications, including imperforated anus, vesicoureteral reflux, hydronephrosis, and chronic kidney disease. Herein, we present a case of Kleefstra syndrome with recurrent urinary tractinfections associated with vesicoureteral reflux and rectourethral fistula, which was treated by a multidisciplinary approach.

THE EFFECT OF FACIAL SCREENING ON PICA TREATMENT IN A CHILD WITH SEVERE RETARDATION (이미증(pica) 치료에 있어서 얼굴가리게 사용의 효과)

  • Chung, Bo-In
    • Journal of the Korean Academy of Child and Adolescent Psychiatry
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    • v.6 no.1
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    • pp.109-115
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    • 1995
  • The main purpose of this study was to treat pica in a 2.8 year old child with severe mental retardation along with autistic tendencies. His developmental age ranged from 12 to 15 month on the DDST and he had no means of communication. He was on Tegretol 200mg for seizure control. His pica involved thumb sucking, putting toys into his mouth, and licking furniture wherever he went Besides pica, he had a rumination problem. The treatment strategies for his pica consisted of two phases : In phase 1, The child was taught toy play through a 3-step guided compliance training, while his pica and rumination behaviors were recorded to investigate whether active toy play could effect any change in the untreated pica and rumination behaviors of this child. In phase 2, a facial screening was used as a means to control his pica, while his rumination was recorded to see whether controlling his pica could bring any change in the untreated ruminating behavior. The results showed that the facial screening was very effective in decreasing his pica from an average of 18.6 times per 15 minute in the baseline to 2.3 times post-treatment. Response covariation was observed across pica and rumination while toy play compliance training alone was being conducted, and covariation across rumination was observed while pica alone was being treated with facial screening.

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Final height of Korean patients with early treated congenital hypothyroidism

  • Lee, Jiyun;Lee, Jeongho;Lee, Dong Hwan
    • Clinical and Experimental Pediatrics
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    • v.61 no.7
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    • pp.221-225
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    • 2018
  • Purpose: Congenital hypothyroidism (CH) is the most common endocrine disorder in children. Thyroid hormone deprivation results not only in mental retardation but also growth retardation. This study investigates the final height (FH) in Korean patients with CH detected by newborn screening and examines factors that may affect the FH. Methods: The medical records of Korean CH patients (n=45) were reviewed. The FH was examined and target height (TH) was calculated based on mid-parental height. The FH z score (FHZ) and TH z score (THZ) were computed using the 2007 Korean National Growth Chart. The FHZ and THZ were compared with a Student t test. The impact of the etiology of CH (athyreosis, dyshormonogenesis, ectopic thyoid, hypoplastic thyroid), initial serum thyroid stimulating hormone (TSH) level, initial free thyroxine (T4) level, and time of therapy initiation based on FH was assessed. Results: The mean FHZ was $0.10{\pm}1.01$ for male patients and $-0.11{\pm}1.09$ for female patients. There were no significant differences between FHZ and THZ for both female (P=0.356) and male patients (P=0.237). No significant relationship was found between FH and the etiology of CH, initial TSH level, initial free T4 level, and the time of therapy initiation. Conclusion: Early intervention and satisfactory management do not appear to impede growth in Korean patients with CH. Thus, early detection and proper management of patients with CH detected by newborn screening program are necessary.

Monosomy 21 Mosaicism in a Child with Dyserythropoiesis (적혈구 이형성증(Dyserythropoiesis)의 소견을 보이는 부분 21-monosomy 증후군)

  • Lim, Jae-Young;Seo, Ji-Hyoun;Choi, Myoung-Bum;Park, Chan-Hoo;Woo, Hyang-Ok;Youn, Hee-Shang
    • Clinical and Experimental Pediatrics
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    • v.46 no.4
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    • pp.397-399
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    • 2003
  • All complete monosomy 21 appear to be lethal early in their development in humans and only survive in mosaic forms. Complete monosomy 21 is a very rare and usually debilitating genetic disorder. Partial monosomy 21 is also rare and is thought to constitute a clinical syndrome consisting of peculiar faces, hypertonia, psychomotor retardation, and slow growth. We experienced a case of monosomy 21 mosaicism. Chromosome analysis demonstrated mosaicism for cell lines in the lymphocytes examined; 45, XX, -21/46, XX. The main clinical features were craniofacial dysmorphism including high arched palate, submucosal cleft, micrognathia and arthrogryposis-like symptoms including flexion deformity of fingers. And hematological findings were revealed dyserythropoiesis, thrombocytopenia and eosinophilia. Currently, the patient has nearly compatible growth, but a mild degree of mental retardation. We report here an 8 years old female child with apparent monosomy 21 mosaicism associated with dyserythropoiesis, thrombocytopenia and eosinophilia, with a review of the associated literatures.