• Korean Journal of Psychosomatic Medicine
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• v.21 no.2
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• pp.99-105
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• 2013

The movement disorders in psychiatry have been neglected, though it is an important psychiatric dimension to exert unfavorable influence on patients'quality of life. The etiologies of movement disorders in psychiatry can be classified as primary neurological disorders, psychiatric comorbidities of neurological disorders, manifestations of primary psychiatric disorders, drug-induced movement disorders and psychogenic movement disorders. For the rapid and proper treatment for movement symptoms and signs easily observed from psychiatric patients, psychiatrists' ability toward precise disgnosis and differential diagnosis of movement disorders should be preceded.

• Annals of Clinical Neurophysiology
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• v.21 no.2
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• pp.108-112
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• 2019

Non-Hodgkin's lymphoma (NHL) may initially present with atypical neurological manifestations, including paraneoplastic neurological syndromes. Herein, we report the case showing an initial manifestation of systemic NHL with paraneoplastic demyelination in the brain that initially mimicked the symptoms of stroke, seizure, and brain tumor. A high index of suspicion and timely diagnostic workup is required to prevent diagnostic delay and commence proper management of the condition. In this situation, a whole-body FDG PET/CT could be useful to screen for occult malignancy.

• Clinical and Experimental Pediatrics
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• v.57 no.2
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• pp.91-95
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• 2014

Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.18 no.2
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• pp.121-127
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• 2015

Purpose: To evaluate clinical and laboratory profile of Wilson's disease (WD) in children. Methods: This cross sectional study was conducted at Bangabandhu Sheikh Mujib Medical University Hospital. Bangladesh, over a period of 3 years. One hundred consecutive children of WD between 3 to 18 years of age were evaluated. Results: Mean age was $8.5{\pm}1.5years$. Male female ratio was 2:1. Ninety-one percent of patients were Muslim and 9% Hindu. A total of 53% cases of hepatic WD presented between 5 to 10 years of age and most of the neurologic WD manifested in 10-15 years age group. Sixty-nine children presented only with hepatic manifestations, 6 only with neurological manifestations, 14 with both hepatic and neurological manifestation, 10 children was asymptomatic and 1 patient presented with psychiatric features. WD presented as chronic liver disease (CLD) in 42%, CLD with portal hypertension in 34%, acute hepatitis in 20% and fulminant hepatic failure in 4% cases. Stigmata of CLD were found in 18% patients. Keiser-Fleischser ring was found in 76% total patients. Elevated serum transaminase was found in 85% cases, prolonged prothrombin time in 59% cases and hypoalbuminaemia in 53% cases. A total of 73% patients had low serum ceruloplasmin, basal urinary copper of >$100{\mu}g/day$ was found in 81% cases and urinary copper following penicillamine challenge of >$1,200{\mu}g/day$ was found in 92% cases. Conclusion: Majority of studied WD children presented with hepatic manifestation of which 76% presented with CLD. Any child presented with jaundice after the age of 3 years should be investigated for WD.

• Clinical and Experimental Pediatrics
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• v.55 no.2
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• pp.48-53
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• 2012

Purpose: Gaucher disease is caused by a ${\beta}$-glucocerebrosidase (GBA) deficiency. The aim of this study is to investigate the clinical and genetic characteristics according to subtypes of Gaucher disease in the Korean population. Methods: Clinical findings at diagnosis, $GBA$ mutations, and clinical courses were reviewed in 20 patients diagnosed with Gaucher disease. Results: Eleven patients were diagnosed with non-neuronopathic type, 2 with acute neuronopathic type, and 7 with chronic neuronopathic type. Most patients presented with hepatosplenomegaly, thrombocytopenia, and short stature. In the neuronopathic group, variable neurological features, such as seizure, tremor, gaze palsy, and hypotonia, were noted at age $8.7{\pm}4.3$ years. B cell lymphoma, protein-losing enteropathy, and hydrops fetalis were the atypical manifestations. Biomarkers, including chitotriosidase, acid phosphatase, and angiotensin-converting enzyme, increased at the initial evaluation and subsequently decreased with enzyme replacement treatment (ERT). The clinical findings, including hepatosplenomegaly, thrombocytopenia, and skeletal findings, improved following ERT, except for the neurological manifestations. L444P was the most common mutation in our cohort. One novel mutation, R277C, was found. Conclusion: Although the clinical outcome for Gaucher disease improved remarkably following ERT, the outcome differed according to subtype. Considering the high proportion of the neuronopathic form in the Korean population, new therapeutic strategies targeting the central nervous system are needed, with the development of a new scoring system and biomarkers representing clinical courses in a more comprehensive manner.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.20 no.4
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• pp.259-262
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• 2017

Mitochondria play essential role in eukaryotic cells including in the oxidative phosphorylation and generation of adenosine triphosphate via the electron-transport chain. Therefore, defects in mitochondrial DNA (mtDNA) can result in mitochondrial dysfunction which leads to various mitochondrial disorders that may present with various neurologic and non-neurologic manifestations. Mutations in the nuclear gene polymerase gamma (POLG) are associated with mtDNA depletions, and Alpers-Huttenlocher syndrome is one of the most severe manifestations of POLG mutation characterized by the clinical triad of intractable seizures, psychomotor regression, and liver failure. The hepatic manifestation usually occurs late in the disease's course, but in some references, hepatitis was reportedly the first manifestation. Liver transplantation was considered contraindicated in Alpers-Huttenlocher syndrome due to its poor prognosis. We acknowledged a patient with the first manifestation of the disease being hepatic failure who eventually underwent liver transplantation, and whose neurological outcome improved after cocktail therapy.

• The Korean Journal of Nuclear Medicine
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• v.32 no.6
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• pp.534-541
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• 1998

We describe a 27-year-old man who developed gait disturbance and dysarthria 2 years after the onset of cardinal symptoms of Behcet's disease. Positron emission tomography with $^{18}F$-fluorodeoxyglucose revealed severe hypometabolisrn in the cerebellum, in accordance with cerebellar symptoms and signs of the patient. However, single-photon emission tomography with $^{99m}Tc$-HMPAO and $^{99m}Tc$-ECD did not disclose significant perfusion abnormalities in the brain. Routine brain magnetic resonance imaging did not show signal abnormalities. The findings of imaging studies compared with neurological manifestations of the patient are discussed.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.43-46
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• 2013

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.

• Clinical and Experimental Pediatrics
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• v.45 no.12
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• pp.1601-1605
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• 2002

Henoch-Sh${\ddot{o}}$nlein Purpura(HSP) is an immuologically mediated systemic vasculitis of small blood vessels affecting predominantly the skin, gastrointestinal tract, joints, and kidneys. Clinical neurological manifestations such as headaches, behavioral changes, mental changes, seizures, and visual loss are described, but neurological complication are rare during the course of HSP. We experienced a case of an 8 year-old male with HSP who presented with seizures. Magnetic resonance imaging(MRI) showed multiple high signal intensity in both cortical and subcortical areas of frontal and parieto-occipital lobes and magnetic resonance(MR) angiogram showed stenosis of cerebral arteries, compatible with MRI and MR angiogram findings of cerebral vasculitis. We report this case with related literature.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.30 no.3
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• pp.127-131
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• 2019

Many neurologic disorders manifest as psychiatric symptoms. Anti-N-Methyl-D-Aspartate (NMDA) receptor encephalitis is an autoimmune disease of the brain characterized by numerous neurological and psychiatric features. Despite being rare, its prevalence is rapidly increasing and early management is critical in ensuring successful and sustainable recovery. Therefore, the illness should be considered as a differential diagnosis when clinically assessing patients. This report presents a case of a female child who was hospitalized for acute psychiatric manifestations, which was later confirmed as anti-NMDA receptor encephalitis. She recovered relatively successfully after combined neurological and psychiatric treatment. This report provides information on the clinical course of early onset anti-NMDA receptor encephalitis, including treatment strategy and prognosis.