• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.3
• /
• pp.155-159
• /
• 2015

Citrin deficiency (OMIN #605814) is an autosomal recessive disorder caused by the SLC25A13 gene mutation with abnormal biochemical findings, including increased serum ammonia, citrulline, arginine, galactose, serum threonine-to-serine ratio, serum pancreatic secretory trypsin inhibitor, and alpha-fetoprotein. Citrin deficiency can manifest in three ways: in newborns as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as citrullinemia type 2 (CTLN2) with recurrent hyperammonemia and neuropsychiatric symptoms. We report a 35-day-old asymptomatic patient with citrin deficiency who had abnormal biochemical findings.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.11 no.1
• /
• pp.88-98
• /
• 2011

Lesch-Nyhan syndrome is a X-linked recessive disorder caused by a deficiency of the enzyme hypoxanthine-guanidine phosphoribosyltransferase (HPRT), enzyme to recycle purines. Case history: born induced vaginal delivery at 40 weeks complicated by premature membrane ruputure, body weight 2.820 gm. He showed failure to thrive showing severe protein aversion like milk products and pink daper. Developmental delay revealing rolling over at 10.5 month, followed by regression. Seizure at 2 months, His poor oral feeding was lifelong problem. Weak crying, spastic, choreoathetoid movement. Self mutilating behavior noted and diagnosed at age 3 years. No family history of consanguinity and neurological disorders. Method: Laboratory test, physical exam, imaging study and molecular. Clinical follow up Treat ment with allopurinol. Result: uric acid 10.5 mg/dL (N 3.5-7.9), APRT 151.1uM/ min/ml pro(25.7-101), HPRT 7.6 (N 233.5-701) and c.151C>T hemizygote (p,Arg51X). Abdominal sonogram showed staghorn calculi in both kidneys, brain MRI brain atrophy. Clinical follow up showed, seizure at 2 mo, developmental delay (head control and, rolling over at at 11mo, pointing body part at 2 yr 7 mo, eye hand coordination at 2 y 11mo,creeping at 3 y 7 mo, speaking words at 6 y 6 mo ),and developmental regression at 3 yr of age. Sleeping problem including insomnia and severe constipation. Self mutilating behavior (lip bite) started at 2.5 yr, neurologic sx including intermittent upward gaze accompanied by swallowing difficulty at 3 y 7 mo grand mal seizure at 4.5 yr and spastic extremity and trunchal hypotonia and choleoathetoid movement and ataxia at 6.5 yr. Scoliosis with severe spasticity at 9 yr 9 mo. Acute life threatening episode with irregular breathing at 9 yr and 9 mo, Emaciation and nephrolithiasis and recurrent pneumonia. Died suddenly at 10 yr 3 mo. Conclusion: life long feeding problem, chronic gut motility dysfunction, sleeping difficulty and progressing neurologic deterioration and nephrolithiasis despite normal serum uric acid maintence by allopurinol treatment.

• Archives of Plastic Surgery
• /
• v.36 no.6
• /
• pp.803-805
• /
• 2009

Purpose: Many conditions can mimic the presentation of burns. Herpes zoster is one of them. The characteristic features of herpes zoster such as vesicles, pustular lesions and crusts can also be found in burns. Herpes zoster ophthalmicus is a disease caused by recurrent infection of varicella - zoster virus in the ophthalmic division of the trigeminal nerve. This virus frequently affects nasociliary branch and serious ocular complications can occur. Thus, early diagnosis and proper treatment of this disease is important to prevent further ocular manifestations. We report a man who sustained minor facial burn injury that was complicated with herpes zoster ophthalmicus. Methods: A 66 - year - old man visited emergency room with multiple whitish vesicles with serous discharge on right forehead, right medial canthal area and nose. At first he was thought to have a secondary infection of facial burn injury. The vesicles on his face began to form crusts on the next day. Since his skin lesion was located on the ophthalmic division of trigeminal nerve, we also suspected herpes zoster ophthalmicus. He was referred to dermatologist and ophthalmologist. Results: We used antiviral agent (Acyclovir) and NSAIDs for treatment. The patient had no ocular complications. His skin lesion was almost healed after 1 month and remained scars. We treated a patient with minor facial burn complicated with herpes zoster ophthalmicus with antiviral agent. Conclusion: In this work, we describe a case of old patient with herpetic infection and emphasize the need for careful examination to diagnose accurately.

• Journal of Chest Surgery
• /
• v.29 no.5
• /
• pp.530-535
• /
• 1996

Saprophytic aspergillosis (aspergilloma), a potentially life-threatening disease from the colonization of lung cavities by the ubiquitous fungus Aspergillus fumigatus, has been of surgical concern. Twelve patients with symptomatic aspergilloma underwent operative procedures at Pusan national University Hospital between January 1, 1984 and August 31, 1994. The mean age of the patients was 38.8 years and nine of them had hemoptysis; in two it was massive and life-threatening. Wine of the patients had underlying causes of cavitary lung disease and tuberculosis was the most common cause. Lobectomy was the most commonly performed procedure (in six) . Several major complications including excessive bleeding (2), and pneumonia (2), and empyema with bronchopleural fistula (1) occurred .and one patient died (operative mortality=8.3%). There were no recurrent symptoms in any of the 11 operative survivors during the follow-up period. It is concluded that early, aggressive surgical intervention can provide definite cure in established aspergilloma, even with minimal symptoms.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.14 no.2
• /
• pp.168-173
• /
• 2014

Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder caused by a mutation of the type III collagen (COL3A1). The manifestation of vEDS can be seen in skin, joints, blood vessels, and internal organs. The diagnosis of vEDS often is missed until the patient presents with a life-threatening complication such as spontaneous arterial rupture or bowel perforation. We report a 16-year-old male who had recurrent right thigh hematoma after simple exercise and minor trauma, respectively. He had a history of surgery due to spontaneous colon perforation at his age of 11 years. Gene test of COL3A1 revealed a novel mutation c.2931+dupT.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.1
• /
• pp.13-17
• /
• 2018

Methylmalonic acidemia is an autosomal recessive disorder caused by complete (mut0) or partial (mut-) deficiency of methylmalonyl-CoA mutase (MUT) or by defects in the synthesis of adenosylcobalamin (cblA, cblB, cblD variant 2). Long term complications of methylmalonic acidemia include tubulointerstitial nephritis with progressive renal failure, intellectual impairment, pancreatitis, and growth failure. We report a case of methylmalonic acidemia in a girl who diagnosed at 6 days after birth. She has developed recurrent metabolic crises with hyperammonemia and metabolic acidosis. In addition, she suffered from the chronic complications including tubulointerstitial nephritis, electrolyte imbalance associated with renal dysfunction, growth failure and fracture of femur shaft. At the age of 10 years, hypercalcemia and severe osteoporosis were noted, and pamidronate therapy was given for two years, which relieved hypercalcemia and osteoporosis.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.18 no.1
• /
• pp.18-22
• /
• 2018

Carbamoyl phosphate synthetase I (CPS1) deficiency is a rare autosomal recessive urea cycle disorder that causes hyperammonemic crisis. CPS1 is the first enzyme encoded by the CPS1 gene, which catalyzes the first step of the urea cycle. In CPS1 deficiency, ammonia, the toxic metabolite produced by the interruption of the urea cycle, is accumulated in the blood and brain, leading to hyperammonemic encephalopathy and irreversible brain damage. Here, we report a fatal case of neonatal-onset CPS1 deficiency in a 4-day-old girl presenting with recurrent seizures, who was revealed to be homozygous for c.1529delG ($p.Gly510Alafs^*5$).

• The Korean Journal of Cytopathology
• /
• v.17 no.1
• /
• pp.27-31
• /
• 2006

Periductal mastitis is a specific clinicopathologic entity, and is referred to by several names: recurrent subareolar abscess, squamous metaplasia of the lactiferous duct, and Zuska's disease. Clinically, the differentiation of periductal mastitis from other benign lesions and carcinomas around the nipple frequently proves a difficult proposition. We reviewed the fine needle aspiration cytology (FNAC) of 14 cases of periductal mastitis, which had been diagnosed either radiologically, histologically, or clinically. The patient group included 13 female patients, and one male. The majority of the patients in this group had presented with subareolar masses. All cases evidenced characteristic anucleated squamous cell clusters within a mixed inflammatory background. A diagnosis of periductal mastitis can be rendered fairly readily on excisional biopsy. However, FNAC is considered to be superior to excisional biopsy as an initial diagnostic procedure for any palpable mass in subareolar lesions of the breast. FNAC can also be a useful diagnostic technique in cases of periductal mastitis, even in the early phases of the disease. A definitive diagnosis of subareolar abscess via FNAC will enable the clinician to select the most appropriate medical or surgical treatment.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.12 no.2
• /
• pp.104-107
• /
• 2012

Alpha-methylacetoacetic aciduria is a rare inborn metabolic disorder, caused by acetyl-CoA acetyltransferase-1 deficiency. This enzyme acts on the last step of isoleucine metabolism. It dissociates 2-Methyl-3-Hydroxybutyryl-CoA into propionyl-CoA and acetyl-CoA. ACAT1 is the causative gene. Most patients manifest recurrent ketotic metabolic acidosis, but some patients can be identified in their presymptomatic period by newborn screening. Urinary organic acid profile is characterized by increased amounts of 2-Methyl-3-Hydroxybutyric acid, tiglylglycine, and 2-methyl acetoacetic acid. In this report, a Korean patient with alpha-methylacetoacetic aciduria is described. This is the first Korean case report confirmed by genetic testing.

• International Journal of Advanced Culture Technology
• /
• v.7 no.4
• /
• pp.156-162
• /
• 2019

Rheumatoid arthritis (RA) is a chronic autoimmune disorder characterized by progressive joint deterioration; Furthermore, RA can also affect body tissues, including the skin, eyes, lungs, heart and blood vessels. The early stages of RA can be difficult to diagnose because the signs and symptoms mimic those of many other diseases. It is not known exactly what triggers the onset of RA and how to cure the disease. But recent discoveries indicate that remission of symptoms is more likely when treatment begins early with strong medications known as disease-modifying anti-rheumatic drugs (DMARDs). Tumor necrosis factor (TNF) inhibitors are typical examples of biotherapies that have been developed for RA. The substances may occur naturally in the body or may be made in the laboratory. Other biological therapies care biological response modifiers (BRMs)such as monoclonal antibodies, interferon, interleukin-2 (IL-2) and a protein binder using repeat units. These substances play significant anti-inflammatory roles. Proteins with recurrent, conserved amino acid stretches mediate interactions among proteins for essential biological functions; for example, ankyrin (ANK), Heat repeat protein (HEAT), armadillo repeat protein (ARM) and tetratricopeptide repeats (TPR). Here, we describe Leucine rich repeats (LRR) that ideally fold together to form a solenoid protein domain and is more applicable to our current study than the previously mentioned examples. Although BRMs have limitations in terms of immunogenicity and effector functions, among other factors, in the context therapeutic use and for proteomics research, We has become clear that repeat-unit-derived binding proteins will increasingly be used in biotechnology and medicine.