• 셀메드
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• 제13권14호
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• pp.16.1-16.14
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• 2023

Objective: Cerebral palsy (CP) is a neurodevelopment disorder attributed to an insult or injury to the developing brain with abnormalities in muscular tone, movement and motor skill. Improvement in quality of life and ameliorating symptoms can be achieved. Therefore, this case report details a distinctive approach to treating a 5-year-old male child with quadriplegic spastic cerebral palsy utilizing Unani treatment modalities. Methods: The treatment regimen commenced with 'Habb Ayarij for constipation followed by Sharbat Ustukhuddus administered orally. Notably, Sharbat Ustukhuddus was combined with Melia Azedarach L. leaves vapour bath. Subsequently, Roghan Babunna douche was performed followed by Dalk Layyin andcontinued until symptomatic improvement was observed. Majun Falasfa, Khamira Marwareed and Khameera Gauzaban were administered for 30 days. The therapeutic outcome included anthropometrical measurements, developmental milestones, spasm/reflex scale, and muscle power grading. Results and conclusion: Over the course of a 2-year follow-up, several clinical findings emerged. These included notable improvements in anthropometric measurements, developmental milestones such as improved head control and sitting ability, and a reduction in spasticity of the upper limbs, along with decreased muscle spasms. The therapeutic outcome of this individualized and holistic approach is potentially due to the multifaceted properties of medicinal plants (Musakkin wa Muharrik wa Muqawwi-i- A'sab wa Dimāgh, Munawwim, Dafi-i-Tashannuj, Muqawwi-i-Qalb-i-Ruh). Furthermore, the use of Dalk and Naṭūl was instrumental in providing nourishment to musculoskeletal cells and initiating intracellular signaling cascades. While these findings are encouraging, further research in the form of case series andrandomized controlled trials is warranted to validate the efficacy of this unique holistic approach.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• 대한유전성대사질환학회지
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• 제23권2호
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• pp.31-38
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• 2023

Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder caused by a deficiency in branched chain α-keto acid dehydrogenase (BCKAD). Between 1997, when Korea's MSUD case was first reported, and 2023, 14 cases were reported in the literature. 29% of the cases experienced developmental delay, and 29% expired. The prevalence of MSUD in Korea was estimated to be 1 in 230,000. Of 21 MSUD patients currently being treated at the Korea Genetics Research Center, 19 were detected through newborn screening program, and 2 were diagnosed by the symptoms. 14 MSUD patients had confirmed genetic mutations; 6 (43%) were BCKDHA and 8 (57%) were BCKDHB. In one case, a large deletion was observed. 4 patients had leucine levels above 2,000 (umo/L), and post-dialysis diet therapy was initiated in the newborn period. No patient required further dialysis as diet therapy and regular monitoring proved highly effective. Most MSUD patients were growing normally; weight and height growth were above the 50th percentile in 76% of the cases while BMI values were higher than normal in 71% of cases. Developmental delays were observed only in 2 cases (10%) and anticonvulsant use in 3 cases (14%). With newborn screening available to all Korean infants, early diagnosis and intervention should allow most patients to remain asymptomatic. However, ongoing surveillance, dietary management and continued patient compliance as well as rapid correction of acute metabolic decompensations remain critical to a favorable long-term prognosis.

• International Journal of Advanced Culture Technology
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• 제12권1호
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• pp.43-50
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• 2024

Patients with acute respiratory diseases, such as Middle East Respiratory Syndrome (MERS) due to COVID-19, must wear masks, protective clothing, face shields, and gloves to prevent infection during treatment and performance. Even if it is applied to disabled people, families who protect them are severely mentally tired from severe physical fatigue and stress from exposure to high-risk infectious diseases. As such, the spread of infectious diseases such as respiratory diseases has not only caused difficulties in using existing welfare and medical services but also caused various problems throughout the daily life of disabled people due to the prolonged infectious disease, and its scope is gradually expanding. Therefore, it should not be overlooked that disabled people may experience various difficulties, from the spread of infectious diseases such as respiratory diseases to isolation, diagnosis, and treatment, and it is time to actively assess the life changes felt by families caring for disabled people and consider and research to provide adequate services. According to the survey of disabled people is being conducted in the context of the spread of infectious diseases such as respiratory diseases, while research on the spread of infectious diseases such as respiratory diseases is rare for parents with disabilities. There is a need for additional investigation into the characteristics in other areas of everyday life, including the health field, which is deteriorating through prior research. Therefore, through this survey, the purpose of this study is to investigate the life changes of parents with disabilities in the context of the spread of infectious diseases such as respiratory diseases and to compare and analyze them to find out how parents were affected by each type of disability. It will be used as evidence to identify more necessary needs and problems for parents with disabilities in the spread of infectious diseases such as respiratory diseases and to provide more appropriate health care and welfare services in the future.

• 대한장애인치과학회지
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• 제5권2호
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• pp.92-95
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• 2009

1. 이 증례는 Pierre Robin Sequence로 진단받은 14개월 남아로 PRS의 3요소 중 하악왜소증, 설하수증의 소견을 보이고 있었으며 기도확보는 측와위를 통하여, 섭식은 PEG 도관삽입술을 시행하여 유지하고 있었다. 2. PRS는 해부학적 폐쇄 질환이기도 하지만 성장 장애이기도 하므로 여러 분야의 다원적 접근 및 치료계획이 필요하며, 다른 증후군들과 연관되어 심장질환, 신경질환, 안과질환, 청력문제 등이 동반될 수 있으므로 치과 진료실 에서 PRS 환아의 진료시 이 점을 유의해야할 것이다.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제16권2호
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• pp.173-182
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• 2005

소아기 발병 정신분열병(COS)은 비록 흔하지는 않지만 성인 발병 정신분열병에 비해 보다 동질적인 집단이며 질병의 진행과정을 추적할 수 있다는 면에서 정신분열병 연구자들의 관심의 대상이 된다. COS 환자에대한 기존의 연구 결과들은 소아에서도 성인 진단기준에 의거한 구조적면담을 통해 객관적으로 타당성 있는 정신분열병 진단이 가능하다는 것이다. 또한 소아와 성인 발병 정신분열병이 동일한 임상양상과 질병 진행과정을 보이며 생물학적 여러분야(신경심리, 신경생리, 뇌 구조, 뇌 생화학, 유전 및 염색체)의 연구결과들 역시 성인 발병 정신분열병과 동일한 소견을 보인다는 것이다. 다만 차이점은 COS의 경우 치료 약물반응이 상대적으로 떨어지고, 임상경과 및 예후가 나쁘고, 발병전 발달(언어, 인지, 섬세운동)에 문제가 심각하고, 염색체 이상, 정신분열병이나 정신분열병 스펙트럼 장애의 가족력이 흔하여 유전적 부하가 높다는 것이다. 향후 COS 환자를 대상으로한 유전연구 및 뇌발달 영상 추적연구는 정신분열병의 뇌 신경발달에 관한 기초적인 지식을 확대시킬 것이다. 즉 뇌 발달을 조절하는 유전자의 기능과 발현 시기에 대한 좀 더 명확한 지식을 제공할 것이며 이를 토대로한 위험군에 대한 조기발견 및 치료방안이 강구되어야 하겠다.

• Clinical and Experimental Pediatrics
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• 제46권5호
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• pp.505-509
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• 2003

저자들은 빈번한 구토와 성장 장애, 발달 지연 등을 주소로 내원한 1년 7개월된 남아에서 HPRT에 대한 생화학적 효소 분석을 통해 진단하고, HPRT 유전자에 대한 분자유전학적 분석을 시행하여 병인이 되는 돌연변이가 확인된 Lesch-Nyhan 증후군 1례를 경험하였기에 이를 문헌고찰과 함께 보고하는 바이다.

• 대한치과마취과학회지
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• 제2권2호
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• pp.101-106
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• 2002

Background: The management of the behavior of handicapped children when providing required dental care is often a problem, whether in the dental office or in a hospital setting. Because of the high incidence of poor cooperation, many of these patients are scheduled for dental care under general anesthesia with preoperative medical assessment. The purpose of this study was to carry out a clinico-statistical survey on dental treatment for handicapped children under general anesthesia. Methods: After approval from the institutional review board, the medical records of 64 handicapped children between 1997 and 2002 were reviewed to determine the patient profiles, anesthesia management, and complications. The charts of these patients, who underwent dental examination, scaling and prophylaxis, and restoration and extraction of teeth under general anesthesia, were reviewed. Results: The mean age was 12.8 years old, and males (53%) predominated females (47%). Twenty-four patients had mental retardation, twelve had autism, six had cerebral palsy, 4 had behavior disorder, others had heart disease, convulsive disorder, etc. Sixty-two had intravenous thiopental with neuromuscular blocker, 2 had intravenous ketamine induction. Nasotracheal intubation was uneventful in 55 patients, nine had orotracheal intubation because of difficult visualization of the larynx. Twenty-one patients experienced postoperative complications in the recovery room, including epistaxis, nasal obstruction, vomiting, airway obstruction, respiratory depression. Conclusions: General anesthesia is a very effective way of completing the dental treatments for disabled children. We emphasize the need to train anesthesiologists in the care of disabled patients.

• 수면정신생리
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• 제3권2호
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• pp.65-76
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• 1996

Natural sleep pattern and its physiology in childhood are much different from those in adulthood. Several aspects of clinical evaluation for sleepiness in childhood are more difficult than in adulthood. These difficulties are due to several factors. First, excessive sleepiness in childhood do not always develop functional impairments. Second, objective test such as MSLT may not be reliable since it is hard to be certain that the child understand instructions. Third, sleepiness in children is often obscured by irritability. paradoxical hyperactivity, or behavioral disturbances. Anseguently, careful clinical evaluation is needed for the sleepy children. Usual causes of sleepiness in children are the disorders that induce insufficient sleep such as sleep apnea syndrome, schedule disorder, underlying medical and psychiatric disorder, and so forth. After excluding such factors, we can diagnose the hypersomnic disorders such as narcolepsy, Kleine-Levin syndrome, and idiopathic central nervous system hypersomnia. Among the variety of those causes of sleepiness, I reviewed the clinical difference of narcolepsy and obstructive sleep apnea syndrome in childhood compared with in adulthood. Recognition of the childhood narcolepsy is difficult because even severely sleepy children often do not develop pathognomic cataplexy and associated REM phenomena until much later. Since childhood narcolepsy give srise to many psychological, academical problem. Practicers should be concerned about these aspects. Childhood obstructive sleep apnea syndrome is different from adult obstructive sleep apnea syndrome too. Several aspects such as pathophysiology. clinical feature, diagnostic criteria, complication, management, and prognosis differ from those in the adult syndrome. An important feature of childhood obstructive sleep apnea syndrome is the variety of severe complications such as behavioral disorders, cognitive impairment, cardiovascular symptoms, developmental delay, and ever death. Fortunately, surgical interventions like adenotosillectomy or UPPP are more effective for Childhood OSA than adult form. CPAP is a "safe, effective, and well-tolerated" treatment modality too. So if early detection and proper management of childhood OSA were done, the severe complication would be prevented or ever cured.

• Clinical and Experimental Pediatrics
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• 제53권4호
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• pp.598-602
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• 2010

신생아 일과성 고암모니아혈증은 고암모니아혈증을 특징으로 하며 대부분 호흡곤란 치료를 받는 미숙아에서 발생한다. 발생원인은 정확히 알려져 있지 않으나 생후 2-3일에 호흡 곤란, 기면, 경련, 혼수 등의 임상 증상을 보이고, 생화학적 검사 상 혈중암모니아 농도가 현저히 증가하며 요소회로 효소 치는 정상을 보인다. 치료가 늦으면 사망에 이르는 응급을 요하는 질환이나 즉각적이고 적절한 치료 시 신경학적 손상을 남기지 않고 호전 가능하다. 저자들은 호흡곤란을 보여 호흡기 치료를 받던 35주 미숙아에서 48시간 내에 경련과 함께 혼수상태에 빠지고 검사상 고암모니아혈증을 보여 신투석 등의 치료 후 회복되었으며 2년 추적관찰에서 정상을 보인 환아를 보고하는 바이다.