• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.189-196
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• 2018

Purpose: Floppy infants or congenital hypotonia indicates decreased muscle tone in infants secondary to abnormalities of the central or the peripheral nervous system, or both. Previous literature classified its causes as those attributable to a central vs. peripheral origin; however, recent studies have introduced a newer classification describing a combined origin. We invenstigated floppy infants by applying the new etiological classification and reviewed the most common etiologies based on the age of presentation. We additionally reviewed the clinical characteristics, diagnoses, and the developmental outcomes in these infants. Methods: We retrospectively reviewed the electronic medical charts and recruited 116 infants diagnosed with floppy infant syndrome between January 2005 and December 2016 at Severance Children's Hospital. Among these infants, 66 with a confirmed diagnosis were reviewed for the etiological classification. Information regarding developmental outcomes was obtained via phone interviews with the infants' families. Results: Based on the new etiological classification, among 69 infants with a confirmed diagnosis, in 40 (34.5%) this syndrome was of central origin, in 19 (16.4%) of peripheral origin, and in 10 (8.6%) of combined origin. Prader-Willi syndrome, myotonic dystrophy, and spinal muscular atrophy were the most common disorders observed and combined hypotonia showed the poorest developmental outcome. Conclusion: The study states the importance of proper evaluation of etiological diagnosis and optimal intervention for developmental prognosis. The introduction of a new etiological group of combined hypotonia especially emphasizes regular monitoring and timely rehabilitative intervention in patients for the better quality of life in them as well as their caregivers.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.100-105
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• 2007

Cockayne syndrome is a rare autosomal recessive disorder characterized by cachectic dwafism, mental retardation, loss of facial subcutaneous adipose tissue, microcephaly and photosensitive dermatitis. It is associated with renal abnormalities characterized by hyalinization of glomeruli, atrophy of tubules and interstitial fibrosis. To our knowledge, this is the first report of a case of Cockayne syndrome with FSGS in Korea. A 7-year old boy was admitted for evaluation of hypertension and proteinuria, which were detected 2 month ago. He was followed for short stature(<3 percentile), mental retardation(IQ 55), strabismus and dental caries since 3 years ago. He also showed microcephaly, a bird-like face and relatively large hands and feet. Laboratory findings showed decreased creatinine clearance($C_{Cr}$ 76.1 mL/min/$1.73m^2$) and proteinuria(1,548 mg/day). Renal biopsy demonstrated focal segmental glomerulosclerosis of the hilar type with large hyaline deposits, moderate tubular atrophy and interstitial fibrosis. His cardinal features, mental retardation, and renal biopsy findings were consistent with Cockayne syndrome. We report here a very rare case of Cockayne syndrome with FSGS presenting with proteinuria and hypertension.

• Clinical and Experimental Pediatrics
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• v.49 no.2
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• pp.208-211
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• 2006

Dyke-Davidoff-Masson Syndrome (DDMS) is a rare condition characterized by asymmetry of cerebral hemispheric growth with atrophy on one side, ipsilateral compensatory osseous hypertrophy, and contralateral hemiparesis. We experienced a 17 month-old male who presented with left focal clonic or tonic-clonic seizures accompanied by left hemiparesis and developmental delay. Brain MRIs demonstrated progressive atrophy of the right cerebral hemisphere with dilatation of the lateral ventricle, expansion of the ipsilateral frontal sinus with calvarial thickening, and elevation of the petrous pyramid and orbital roof. Brain SPECT showed a decreased volume of the right hemisphere with reduced blood flow. We therefore report a case of DDMS with a review of the literature.

• Journal of Embryo Transfer
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• v.25 no.4
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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.

• Speech Sciences
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• v.10 no.4
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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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• v.51 no.6
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• pp.646-649
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• 2008

Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.

• Journal of Chest Surgery
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• v.20 no.2
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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.

• The korean journal of orthodontics
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• v.50 no.6
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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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• v.26 no.10
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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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• v.44 no.4
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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.