OBJECTIVE: To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics analysis. RESULTS: The proband presented fasting hypoglycemia, hepatomegaly, growth retardation, transaminitis, metabolic acidosis and hyperlactatemia. Liver biopsy indicated GSD. Novel compound heterozygous PYGL gene variants (c.2089A>G/c.158_160delACT) were detected in the proband. Compound heterozygosity was confirmed by Sanger sequencing of the patient's genomic DNA. Provean and MutationTaster predicted the two variants as deleterious and the variant sites are highly conserved. CONCLUSION The compound heterozygous variants (c.2089A>G/c.158_160delACT) of PYGL gene probably underlay the GSD in the patient. The two novel variants have expanded the spectrum of PYGL gene variants and provided the basis for genetic counseling of the family.
Child ; Family ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Mutation ; Whole Exome Sequencing

OBJECTIVE: To explore the clinical features and genetic etiology of a child with glycogen storage disease VI (GSD-VI). METHODS: Clinical data and laboratory results of the patient were collected. Whole exome sequencing (WES) was carried out for the patient. Candidate variant and its parental origin was verified by Sanger sequencing. RESULTS: The patient was a 3-year-and-9-month old boy whom has featured abdominal distention, hepatomegaly, short stature and elevated hepatic transaminase. WES revealed the he has harbored compound heterozygous variants of the PYGL gene, namely c.697G>A (p.Gly233Ser) and c.320dupA (p.Asn107fs). Sanger sequencing has verified that the two variants have derived from his father and mother, respectively. The c.320dupA (p.Asn107fs) variant was unreported previously. CONCLUSION The compound heterozygous variants of the PYGL gene probably underlay the GSD-VI in this patient. Above finding has enriched the spectrum of PYGL gene variants and provided a basis for the treatment and genetic counseling.
Child ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Infant ; Male ; Mutation ; Transaminases/genetics* ; Exome Sequencing

Biologics are the most advanced treatment for psoriasis. Ustekinumab, one of the biologics for psoriasis, is a human monoclonal antibody that binds to the p40 subunit of interleukin-12 and interleukin-23. A 41-year-old woman with a 17-year history of plaque psoriasis and psoriatic arthritis presented with worsening lesions. The patient had previously been treated with a number of topical and systemic medications and narrow band ultraviolet B. However, none of the treatments consistently controlled her disease. Thus, treatment with ustekinumab 45 mg via subcutaneous injection was initiated. Approximately 7 days after the first treatment, she experienced a flare with generalized pustules in her whole body. The condition was controlled with systemic steroid treatment. The patient was subsequently treated with adalimumab, and improvement in her plaque and pustular lesions was noted. Herein, we report a case of psoriasis that flared up after ustekinumab therapy, which was accompanied by a morphological change from plaque to pustular lesions.
Adalimumab ; Adult ; Arthritis, Psoriatic ; Biological Products ; Female ; Glycogen Storage Disease Type VI ; Humans ; Injections, Subcutaneous ; Interleukin-12 ; Interleukin-23 ; Psoriasis* ; Ustekinumab*

We report a case of a young female patient with catatonic features who later turned out to be suffering from an anti-NMDA (N-methyl-D-aspartate)-receptor-antibody encephalitis. A previously healthy 21-year-old woman was admitted to psychiatric inpatient care presenting with acute psychotic behavior with catatonic features. Laboratory tests of serum and CSF (Cerebrospinal fluid), EEG (Electroencephalogram), brain MRI (Magnetic Resonance Imaging) were unremarkable except vague slow wave on EEG. However, subtle cognitive impairment at the bedside examination suggested further imaging studies to rule out possible organic etiology like autoimmune encephalitis. Brain PET (Positron Emission Tomography) and SPECT (Single Photon Emission Computed Tomography) suggested probable inflammation in the brain. In case of autoimmune encephalitis, given the severity of symptoms and worsening course, steroid pulse therapy was initiated promptly even though the diagnosis was not confirmed but presumed at that time. She recovered completely with steroid therapy. Later her disease turned out to be anti-NMDA-receptor-antibody encephalitis by the antibody test which was not available at the time of admission. Psychiatrists need to be aware of autoimmune encephalitis like anti-NMDA-receptor-antibody encephalitis in the differential diagnosis of acute psychosis with catatonic features. Subtle cognitive impairment which tends to be overlooked due to catatonic features might be a clue to suspect the organic etiology.
Brain ; Catatonia* ; Cognition Disorders ; Diagnosis ; Diagnosis, Differential ; Electroencephalography ; Encephalitis* ; Female ; Glycogen Storage Disease Type VI ; Humans ; Inflammation ; Inpatients ; Magnetic Resonance Imaging ; N-Methylaspartate* ; Psychiatry ; Psychotic Disorders ; Tomography, Emission-Computed, Single-Photon ; Young Adult

Wilms' tumor is the most common malignant renal tumor in childhood. The brain metastasis of a Wilms' tumor with anaplastic histopathology is rare. We present the case of an 8-year-old girl with Wilms' tumor, who presented with multiple brain metastases 5 years after her primary diagnosis. The brain masses were diagnosed after a generalized tonic-clonic seizure attack. The big solid mass in the cerebellum was resected, and whole-brain radiotherapy was performed, after which, she succumbed to her disease. In the case of clinical suspicion, cranial surveillance should be included in the routine clinical work-up for Wilms' tumor. Combined aggressive therapy (surgery+radiotherapy+chemotherapy) should be applied whenever possible, for both better survival and palliative aspects.
Brain* ; Cerebellum ; Child ; Diagnosis ; Drug Therapy ; Female ; Glycogen Storage Disease Type VI ; Humans ; Neoplasm Metastasis* ; Radiotherapy ; Seizures ; Wilms Tumor*

Inflammatory myositis as an extra-intestinal manifestation of inflammatory bowel disease (IBD) is rare. Coexistence of immuno-mediated diseases in patients with IBD and myositis suggests a common etiopathogenic mechanism underlying these conditions. The current report refers to a rare case of a 45-year-old Korean female with ulcerative colitis (UC) who developed dermatomyositis. She presented with skin rash and proximal muscle weakness, and her disease activity of UC was in remission state. Electromyography, magnetic resonance imaging, and deltoid muscle biopsy were performed. She was diagnosed with dermatomyositis associated with UC and treatment with glucocorticoids and azathioprine resulted in improvement in muscle power and skin rash. Clinicians should be aware of this unusual extra-intestinal manifestation.
Azathioprine ; Biopsy ; Colitis, Ulcerative* ; Deltoid Muscle ; Dermatomyositis* ; Electromyography ; Exanthema ; Female ; Glucocorticoids ; Glycogen Storage Disease Type VI ; Humans ; Inflammatory Bowel Diseases ; Magnetic Resonance Imaging ; Middle Aged ; Muscle Weakness ; Myositis ; Polymyositis ; Ulcer*

Cytomegalovirus (CMV) is not a rare infection and is frequently observed in immuoncompromised patients. CMV infection is usually asymptomatic in immunocompetent patients however it can be a major cause of morbidity and mortality in immunocompromised patients. The diagnosis of CMV gastric ulcer is not easy because of the absence of characteristic endoscopic features and the difficulty in the identification of infection by routine histologic examinations. We experienced a case of CMV-associated giant gastric ulcer in a patient receiving immunosuppressive therapy. She was a 45-year-old woman with dermatomyositis and had received steroid therapy to control her disease. Epigastric pain developed during therapy and upper endoscopy revealed a gastric ulcer. Despite proton pump inhibitor therapy, her epigastric pain aggravated and follow-up endoscopy revealed a huge gastric ulcer approximately 10 cm in diameter. Histologic findings showed intracellular inclusion bodies after immunostaining which confirmed CMV-associated gastric ulcer. Steroid therapy was discontinued and she received proton pump inhibitors without antiviral agents. Her symptoms improved and follow-up endoscopy revealed successful healing of the CMV-associated gastric ulcer. If an unusual gastric ulcer develops in the immunocompromised patients, CMV gastric ulcer should be suspected and examination for inclusion bodies using CMV immunostaining should be considered.
Antiviral Agents ; Cytomegalovirus ; Dermatomyositis ; Diagnosis ; Endoscopy ; Female ; Follow-Up Studies ; Glycogen Storage Disease Type VI ; Humans ; Immunocompromised Host ; Immunosuppressive Agents ; Inclusion Bodies ; Middle Aged ; Mortality ; Proton Pump Inhibitors ; Proton Pumps ; Steroids ; Stomach Ulcer*

Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disorder that affects multiple organs and is fatal in some cases. Thrombotic thrombocytopenic purpura (TTP), another rare disease, is characterized by multiple organ failure and microangiopathic hemolytic anemia. TTP is an extremely rare complication of AOSD. We report a 59-year-old woman who presented with TTP that manifested after she was diagnosed with AOSD. Initially, her clinical manifestations improved with glucocorticoid therapy. However, her disease worsened and was accompanied by acute kidney injury, thrombocytopenia, hemolytic anemia, petechiae, and impaired consciousness. These clinical findings led to a diagnosis of TTP. This is the first report of AOSD complicated by TTP in Korea. Awareness of the possible development of TTP as a complication of AOSD is important for early diagnosis and treatment.
Acute Kidney Injury ; Anemia, Hemolytic ; Consciousness ; Diagnosis ; Early Diagnosis ; Female ; Glycogen Storage Disease Type VI ; Humans ; Korea ; Middle Aged ; Multiple Organ Failure ; Purpura ; Purpura, Thrombotic Thrombocytopenic* ; Rare Diseases ; Still's Disease, Adult-Onset* ; Thrombocytopenia

The three major forms of treatment for Graves thyrotoxicosis are antithyroid drugs, radioactive iodine therapy and thyroidectomy. Surgery is the definitive treatment for Graves thyrotoxicosis that is generally recommended when other treatments have failed or are contraindicated. Generally, thyrotoxic patients should be euthyroid before surgery to minimize potential complications which usually requires preoperative management with thionamides or inorganic iodine. But several cases of refractory Graves' disease have shown resistance to conventional treatment. Here we report a 40-year-old female patient with Graves' disease who complained of thyrotoxic symptoms for 7 months. Her thyroid function test and thyroid autoantibody profiles were consistent with Graves' disease. One kind of thionamides and beta-blocker were started to control her disease. However, she was resistant to nearly all conventional medical therapies, including beta-blockers, inorganic iodine, and two thionamides. She experienced hepatotoxicity from the thionamides. What was worse is her past history of serious allergic reaction to corticosteroids, which are often used to help control symptoms. A 2-week regimen of high-dose cholestyramine improved her uncontrolled thyrotoxicosis and subsequent thyroidectomy was successfully performed. In conclusion, cholestyramine could be administered as an effective and safe adjunctive agent for preoperative preparation in patients with severe hyperthyroid Graves's disease that is resistant to conventional therapies.
Adrenal Cortex Hormones ; Adult ; Antithyroid Agents ; Cholestyramine Resin* ; Drug Resistance ; Female ; Glycogen Storage Disease Type VI ; Graves Disease* ; Humans ; Hypersensitivity ; Iodine ; Thyroid Function Tests ; Thyroid Gland ; Thyroidectomy* ; Thyrotoxicosis

The importance of anaplastic lymphoma kinase (ALK) as an oncogene in non-small cell lung cancer (NSCLC) has emerged as a major concern due to a dramatic clinical effect of targeted therapy. As compared with the research for targeted therapy, the study about clinicopathological characteristics for ALK positive NSCLC hasn't been worked enough. Here, we describe a 35-year-old woman diagnosed with stage IVb NSCLC with ALK rearrangement. During evaluating her disease, a metastatic lesion to uterine cervix was found. Although lung cancer metastasis to female genital tract is rare, we also present case series that show a metastasis to the female genital tract in NSCLC with ALK rearrangement. These case series could suggest that ALK positive NSCLC has distinct metastatic pattern.
Adenocarcinoma* ; Adult ; Carcinoma, Non-Small-Cell Lung ; Cervix Uteri* ; Female ; Glycogen Storage Disease Type VI ; Humans ; Lung Neoplasms ; Lung* ; Lymphoma* ; Neoplasm Metastasis* ; Oncogenes ; Phosphotransferases*