• 대한소아신경학회지
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• 제26권4호
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• pp.189-196
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• 2018

목적: 늘어지는 영아 증후군은 중추신경계 이상, 말초 신경계 이상 혹은 둘 모두의 이상으로 발생할 수 있다. 늘어지는 영아에서 원인을 진단하는 것은 환아의 치료와 발달 예후를 결정하는 중요한 요소로 현재까지 다양한 진단 알고리듬이 제안되고 있다. 본 논문에서는 늘어지는 영아 증후군의 원인에 대한 새로운 분류 및 증상 발현 시기에 따른 원인, 그리고 이들의 발달 예후에 대해 연구하였다. 방법: 2005년부터 2016년까지 세브란스병원에 내원한 늘어지는 영아들을 대상으로 EMR 차트를 후향적으로 분석하여 진단 및 임상적 특징을 분석하였고 환아들의 발달에 대해 보호자에게 일대일 전화인터뷰를 통해 조사하였다. 결과: 전체 116명의 환아 중에 원인에 대한 확진을 받은 경우가 69명으로 전체 진단율이 59.5%이었고 이들 중 Prader-Willi syndrome, myotonic dystrophy, spinal muscular atrophy가 가장 흔한 진단이었다. 전 연령대에 걸쳐 Prader-willi syndrome이 가장 흔한 진단이었고 특히 1개월 미만 증상 발현군에서는 Prader-willi syndrome, myotonic dystrophy, early infantile epileptic encephalopathy가 흔한 3가지의 진단이었다. 발달 예후 면에서 원인군 중 combined hypotonia에서 전 영역에 걸쳐 가장 나쁜 예후를 보였다. 결론: 현재까지의 논문과 본 논문에서의 늘어지는 영아 증후군에 대한 진단율은 유사했고 각 연령에 따른 흔한 진단에 대해서도 알아보았다. 발달 예후가 가장 나쁜 combined hypotonia군에 속하는 진단으로 확진되거나 의심되는 경우 초기 진단시부터 발달에 대해 체계적이고 단계적인 추적관찰이 필요하다.

• Childhood Kidney Diseases
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• 제11권1호
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• pp.100-105
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• 2007

Cockayne 증후군은 지능저하와 발육부전을 특징으로 하며 피부의 광과민성, 색소성의 망막증, 백내장, 신경전도성 귀머거리 외에 다기관 이상을 동반하는 드문 질환이다. 신장학적 이상 소견 또한 드물지 않게 동반되는 합병증 중 하나이며 병리학적으로 사구체의 유리질화, 세뇨관의 위축 및 간질 내 섬유화가 관찰될 수 있다. 저자들은 7세된 남아에서 Cockayne 증후군의 특징적인 외모와 임상양상을 확인하고 동반된 국소 분절성 사구체 경화증을 진단하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제49권2호
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• pp.208-211
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• 2006

Dyke-Davidoff-Masson 증후군은 일측성 대뇌 반구의 위축과 동측의 대상성 골비대, 반대측의 편마비 등을 특징으로 하는 드문 신경질환이다. 본 증례는 17개월 남아가 좌측 국소적 경련외에 좌측 편마비 및 기타 발달지연을 동반한 경우이다. 당시 시행한 뇌 자기공명영상에서 우측 대뇌 반구의 진행성 위축과 뇌실 확장, 두꺼워진 두개관과 동측 전두부 부비동의 확장, 추체 접형골의 거상을 보였고 뇌 SPECT 촬영상에 우측 대뇌 반구의 위축 및 혈류감소를 보였다. 이 같은 소견들은 Dyke-Davidoff-Masson 증후군에 합당하여 이에 저자들은 본 증례를 문헌 고찰과 함께 보고한다.

• 한국수정란이식학회지
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• 제25권4호
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• pp.297-300
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• 2010

A female reticulated giraffe (Giraffa camelopardalis), 20-month-old, 342 kg, died at Seoul Zoo on January 2, 2009 after a stressful episode of chronic diarrhea. Given the appearances postmortem, it was strongly suspected that the giraffe suffered from malnutrition for a long time. Typical appearances of serous fat atrophy were shown on most fat tissues of body organs such as heart, bone, liver, mesentery and kidney. In this study, the sudden death that had been known as "peracute mortality syndrome" was clearly identified to have resulted from a lack of understanding the Browser's diet and general failure in giraffe husbandry. Individualized care and high quality hay must be provided to compensate higher consumption of metabolic energy and to prevent animal loss in winter season.

• 음성과학
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• 제10권4호
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• pp.221-227
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• 2003

Diadochokinetic (DDK) speech task has been utilized as an evaluating tool for speakers with dysarthria for many years. This study attempted to differently diagnose multiple system atrophy (MSA) from idiopathic Parkinson's disease (PD) using patients' performance of DDK (i.e., alternate motion rate (AMR)). The subjects included 11 cases of pathologically confirmed MSA and 16 IPD patients who commonly presented with parkinsonian syndrome. The speech sample of each patient was analyzed acoustically using the MSPTM(Motor Speech Profile, a module of CSL). The results showed that the average DDK rate was significantly faster in the IPD than the MSA groups in all three syllables (i.e., /puh/, /tuh/. and /kuh/). We propose the average DDK rate variable as a core clinical trait in differentiating the two pathological conditions.

• Clinical and Experimental Pediatrics
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• 제51권6호
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• pp.646-649
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• 2008

Hallermann-Streiff 증후군은 새 모양의 두개 기형, 치아 이상, 털 감소증, 피부위축, 선천성 백내장, 양측 소안구증, 비례적 왜소증 등의 7가지 특징을 동반한다. 소하악증이나 후두 연화증으로 인한 상기도 폐쇄가 문제가 되며, 이로 인한 수면 무호흡증이나, 호흡기 감염, 폐성심, 섭식 곤란 등이 자주 나타난다. 전 세계적으로도 150례 정도가 보고되어 있는 드문 질환으로써, 이에 저자들이 경험한 무수정체를 동반한 Hallermann-Strieff 증후군 1례를 보고하는 바이다.

• Journal of Chest Surgery
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• 제20권2호
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• pp.374-378
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• 1987

Plummer-Vinson syndrome is also termed Paterson-Brown-Kelly syndrome and sideropenic dysphagia, because it was described originally by Paterson and Kelly in 19`19 and it was often combined with iron-deficiency anemia. The syndrome is encountered most often in middle-aged anemic female. It is characterized by dysphagia referred to the upper esophagus, atrophy of the oral or pharyngeal mucous membranes, koilonychia, and stenosis or webs of the upper esophageal mucosa. And it is also related to the late occurrence of the carcinoma of the upper esophagus. Here is presented a case of upper esophageal web with dysphagia and iron-deficiency anemia with review of literature, which was treated by the surgical esophagoplasty to relieve the symptom of dysphagia and to widen the upper esophageal narrowing.

• 대한치과교정학회지
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• 제50권6호
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• pp.407-417
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• 2020

Objective: To investigate the dental phenotypes and treatment modalities (Tx-Mod) in Korean patients with Parry-Romberg syndrome (PRS) using longitudinal data. Methods: The samples consisted of 10 PRS patients, who were treated and/or followed-up at Seoul National University Dental Hospital between 1998 and 2019. Using a novel PRS severity index based on the numbers of the atrophy-involved area and asymmetry-involved item, we classified them into mild (n = 3), moderate (n = 2), and severe (n = 5). Dental phenotypes, including congenitally missing tooth (Con-Missing-Tooth), microdontia, tooth with short root (Short-Root), tooth with dilacerated root, and delayed eruption/impacted tooth, were investigated along with Tx-Mod. Results: The side of occurrence of all dental phenotypes showed 100% concordance with the side of PRS involvement. The most two common dental phenotypes were Con-Missing-Tooth and Short-Root (n = 29 and n = 17 in six patients). The sums of the average number of Con-Missing-Tooth and Short-Root increased from mild PRS to moderate PRS and severe PRS cases (1.0, 6.0, and 6.2). In terms of Tx-Mod, growth observation due to mild atrophy, fixed orthodontic treatment, and grafting were used for mild PRS cases. Tx-Mod for moderate PRS cases involved growth observation for surgery due to an early age at the initial visit. For severe PRS cases, diverse Tx-Mod combinations including unilateral functional appliance, fixed orthodontic treatment, growth observation, grafting, and orthognathic surgery were used. Conclusions: The novel PRS severity index may be useful to provide primary data for individualized diagnosis and treatment planning for PRS patients.

• Journal of Chest Surgery
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• 제26권10호
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• pp.808-811
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• 1993

Leriche syndrome ia a common entity which causes ischemia of the lower extremities. Since the introduction of aortic resection and homograft replacement by Oudot in 1951, reconstructive procedures to restore distal blood flow by either endarterectomy or, later, with prosthetic graft have become standardized. Recently we experienced a case of Leriche syndrome. A 50 year-old male patient admitted with intermittent claudication, impotence, and symmetrical atrophy at lower extremities. Aortogram revealed complete obstruction at infrarenal abdominal aorta and Doppler sonogram revealed only minimal blood flow at left femoral artery.Successful surgical treatment was accomplished with endarterectomy at proximal left renal artery and a bypass from abdominal aorta at the level of both renal arteries to both external iliac arteries with bifurcated Gore-tex vascular graft. After bypass operation, we did palpate with arterial pulse at both popliteal artery.He was recovered without complication.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제44권4호
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• pp.198-203
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• 2018

Dyke-Davidoff-Masson syndrome is a non-inherited rare condition that presents during childhood and is characterized by seizures, hemiplegia, mental retardation, cerebral hemiatrophy, calvarial thickening, and hyperpneumatization of the frontal sinuses. The present article highlights a case of a 12-year-old male child with additional clinical findings of $caf{\acute{e}}$-au-late pigmentation and ocular lipodermoid. This is the first case report of DykeDavidoff-Masson syndrome to describe oral manifestations, such as unilateral delayed eruption of teeth, hypoplasia, and taurodontism, which could be unique and characteristic of this condition. Oral health care providers and physicians should be aware of these oral observations as dental referrals could warrant early dental prophylactic care and can be useful in diagnosing the possible time of injury and type of Dyke-Davidoff-Masson syndrome.