• Clinical and Experimental Pediatrics
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• v.64 no.4
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• pp.149-156
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• 2021

Neurofibromatosis type 1 (NF1), a prevalent genetic disease that is transmitted in an autosomal dominant manner, is characterized by multiple cutaneous cafe-au-lait spots and neurofibromas as well as various degrees of neurological, skeletal, and neoplastic manifestations. The clinical features of NF1 increase in frequency with age, while the clinical diagnosis can remain undetermined in some pediatric patients. Importantly, affected patients are at risk for developing tumors of the central and peripheral nervous system. Therefore, adequate counseling for genetic testing, age-appropriate surveillance, and management are important. This review suggests several issues that should be considered to help general pediatricians provide adequate clinical care and genetic counseling to patients with NF1 and their families.

• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.2
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• pp.37-41
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• 2018

Mucopolysaccharidosis III (MPS III, Sanfilippo syndrome) is a rare autosomal recessive disease caused by a deficiency of one of four enzymes involved in the degradation of glycosaminoglycan (GAG). The resultant cellular accumulation of GAG causes various clinical manifestations. MPS III is divided into four subtypes depending on the deficient enzyme. All the subtypes show similar clinical features and are characterized by progressive degeneration of the central nervous system. A number of genetic and biochemical diagnostic methods have been developed. However, there is no effective therapy available for any form of MPS III, with treatment currently limited to clinical management of neurological symptoms. Main purpose of the treatment for MPS III is to prevent neurologic deterioration. Because conventional intravenous enzyme replacement therapy (ERT) has a limitation due to inability to cross the blood-brain barrier, several innovative therapeutic approaches for MPS III are being developed. This review covers the currently developing new therapeutic options for MPS III including high dose ERT, substrate reduction therapy, intrathecal or intraventricular ERT, fusion protein delivery using bioengineering technology, and gene therapy.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.38-41
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• 2022

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.

• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.32-34
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• 2023

Resistance to thyroid hormone syndrome (RTH) is a genetic disease caused by the mutation of either the thyroid hormone receptor-β (THRB) gene or the thyroid hormone receptor-α (THRA) gene. RTH caused by THRB mutations (RTH-β) is characterized by the target tissue's response to thyroid hormone, high levels of triiodothyronine and/or thyroxine, and inappropriate secretion of thyroid-stimulating hormone (TSH). THRA mutation is characterized by hypothyroidism that affects gastrointestinal, neurological, skeletal, and myocardial functions. Most patients do not require treatment, and some patients may benefit from medication therapy. These syndromes are characterized by decreased tissue sensitivity to thyroid hormones, generating various clinical manifestations. Thus, clinical changes of resistance to thyroid hormones must be recognized and differentiated, and an approach to the practice of personalized medicine through an interdisciplinary approach is needed.

• Journal of Medicine and Life Science
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• v.21 no.1
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• pp.15-19
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• 2024

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a systemic necrotizing vasculitis that predominantly affects small vessels of the body. The two most common ANCAs are myeloperoxidase ANCA and proteinase 3 ANCA. Neurological manifestations are frequent in patients with AAV, including peripheral neuropathy, meningitis, and stroke. AAV-associated ischemic stroke usually affects small vessels supplying the white matter or brainstem. This case report details the presentation and treatment course of a 70-year-old man with rapidly progressive multiple intracranial large artery involvement attributed to myeloperoxidase ANCA-associated vasculitis. Despite treatment with high-dose steroids and a rituximab infusion, the patient developed new speech difficulties and respiratory distress, and brain imaging confirmed new stroke lesions with progressive multiple intracranial large cerebral artery involvement. The patient died from SARS-CoV-2 infection 4 months after the diagnosis. This case emphasized the rare presentation of rapidly progressive large vessel involvement in a patient with myeloperoxidase ANCA-associated vasculitis despite active immunotherapy.

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.4
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• pp.837-842
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• 1998

Rett syndrome is a progressive neurological disorder that occurs exclusively in females. The syndrome is characterized by regression of language, motor development, and stereotypic hand movement. Autistic behavior, breathing irregularities, gait dyspraxia, scoliosis, and seizure are also accompanied. The cause of Rett syndrome is unknown, however, it is believed that the X-chromosome might playa significant role in the development of the syndrome. Patients with this syndrome have unusual oral and/or digital habits such as abnormal chewing pattern, bruxism, hypersalivation, micrognathia, high vaulted palate, tongue protrusion with lower posture of tongue, hand biting, digit-hand sucking. Dentists who are aware of distinct manifestations of Rett syndrome will be able to aid in early diagnosis and treatment of the syndrome. Prior to dental treatment for a patient with the Rett syndrome under sedation or general anesthesia, one should assess the degree of hypersalivation, apnea, severity of autism, expected life span. Early recognition of the syndrome and also dental treatment with established strict preventive guidelines for patients with the Rett syndrome may obviate the necessity of sedation or general anesthesia. Two cases with the Rett syndome were reported. Both patients had most of the above mentioned typical manifestations of the syndrome. Dental treatment for the case 1(8-year-old) including caries control, stainless steel crown, sealant application was performed under general anesthesia. The case 2 could not be undergone the dental treatment due to poor general conditions.

• Journal of Korean Neurosurgical Society
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• v.63 no.3
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• pp.346-357
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• 2020

During the follow-up period after surgery for spinal dysraphism, a certain portion of patients show neurological deterioration and its secondary phenomena, such as motor, sensory or sphincter changes, foot and spinal deformities, pain, and spasticity. These clinical manifestations are caused by tethering effects on the neural structures at the site of previous operation. The widespread recognition of retethering drew the attention of medical professionals of various specialties because of its incidence, which is not low when surveillance is adequate, and its progressive nature. This article reviews the literature on the incidence and timing of deterioration, predisposing factors for retethering, clinical manifestations, diagnosis, surgical treatment and its complications, clinical outcomes, prognostic factors after retethering surgery and preventive measures of retethering. Current practice and opinions of Seoul National University Children's Hospital team were added in some parts. The literature shows a wide range of data regarding the incidence, rate and degree of surgical complications and long-term outcomes. The method of prevention is still one of the main topics of this entity. Although alternatives such as spinal column shortening were introduced, re-untethering by conventional surgical methods remains the current main management tool. Re-untethering surgery is a much more difficult task than primary untethering surgery. Updated publications include strong skepticism on re-untethering surgery in a certain group of patients, though it is from a minority of research groups. For all of the abovementioned reasons, new information and ideas on the early diagnosis, treatment and prevention of retethering are critically necessary in this era.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.14 no.1
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• pp.86-90
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• 2011

Wilson's disease is an autosomal recessive disorder of copper metabolism consequence of which leads to accumulation of copper in the liver, brain, cornea and other tissues. The manifestations are more likely to be hepatic in the early childhood and neurological in the adolescents. In addition, the abnormalities that develop during disease progression may result in other manifestations such as hematologic, endocrine, or renal findings. We report a thirteen year-old girl who manifested tetany shortly after the initial diagnosis of Wilson's disease. Despite aggressive calcium, magnesium and vitamin D replacement, the hypocalcemia and hypomagnesemia did not respond to the therapy promptly. It took more than three weeks for blood levels of the minerals to be normal. We concluded that tetany occurred in our patient because of hypoparathyroidism as a rare complication of Wilson disease, vitamin D deficiency resulting from various conditions, and inconclusive hypomagnesemia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.10 no.1
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• pp.27-30
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• 2010

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal-recessive inborn error of leucine catabolism caused by the deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC). With the introduction of tandem mass spectrometry in newborn screening, this disorder has been identified with unexpectedly high prevalence. The clinical manifestations of 3-MCCD are highly variable ranging from asymptomatic to severe neurological manifestations. 3-MCC is an heteromeric enzyme consisting of ${\alpha}$ - and ${\beta}$ - subunits, encoded by the MCCC1 and the MCCC2 gene, respectively. In the currentreport, a Korean patient with 3-MCCD is described. She was identified by newborn screening test, and has been asymptomatic with normal development and intelligence up to 3.8 years of age. She carries p.[D280Y]+[D280Y] mutations in the MCCC2 gene.

• Journal of the korean academy of Pediatric Dentistry
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• v.38 no.1
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• pp.68-74
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• 2011

Rett syndrome is a X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. Oral manifestations of the disease are commonly associated with the clinical conditions such as convulsion activity, difficulties for oral hygiene behavior, walking problems and oral/digitalmanual habits. Bruxism is the most frequently observed oral habit in patients with Rett syndrome. Two cases with the Rett syndrome were reported. Both patients had the typical manifestations like stereotypic hand movement, bruxism and digit-hand sucking. Caries control for the patients was perfomed under general anesthesia.