Giant Congenital Melanocytic Nevi with Hemangioma : A Case Report in a Newborn / 대한주산의학회잡지

Giant congenital melanocytic nevi are very rare skin lesions with an estimated prevalence of 1 in 20,000 live births, and have high risk of malignant melanoma development and leptomeningeal melanocytosis. Hence, its early and exact diagnosis in the neonatal period is important and essential. Only seven cases of giant congenital melanocytic nevi have been reported in Korea, of which none of the cases were associated with hemangioma. Herein, the authors describe a case of giant congenital melanocytic nevi with huge hemangioma with the pathologic findings that exhibited benign and provide a literature review.

A Case of Extreme Uterine Hypotrophy in Hypogonadotropic Hypogonadism with Partial GH Deficiency

Congenital hypogonadotropic hypogonadism is one of the causes of pubertal failure and primary amenorrhea, it is related to uterine hypotrophy. If the uterus is extremely hypotrophied, it is difficult to identify in imaging studies and can be misdiagnosed as a structural anomaly of internal genitalia. We report a case of extreme uterine hypotrophy in 18-year-old girl with primary amenorrhea that was finally diagnosed as hypogonadotrophic hypogonadism. The patient was initially suspected of Mullerian agenesis owing to the invisible uterus. After 4 months of treatment with estrogen, she showed significant growth of the uterus.

A Case of Extreme Uterine Hypotrophy in Hypogonadotropic Hypogonadism with Partial GH Deficiency

Congenital hypogonadotropic hypogonadism is one of the causes of pubertal failure and primary amenorrhea, it is related to uterine hypotrophy. If the uterus is extremely hypotrophied, it is difficult to identify in imaging studies and can be misdiagnosed as a structural anomaly of internal genitalia. We report a case of extreme uterine hypotrophy in 18-year-old girl with primary amenorrhea that was finally diagnosed as hypogonadotrophic hypogonadism. The patient was initially suspected of Mullerian agenesis owing to the invisible uterus. After 4 months of treatment with estrogen, she showed significant growth of the uterus.

Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby / 소아과

Carnitine (beta-hydroxy-gamma-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic jaundice and poor weight gain, and who responded dramatically to oral carnitine supplementation.

Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby / 소아과

Carnitine (beta-hydroxy-gamma-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic jaundice and poor weight gain, and who responded dramatically to oral carnitine supplementation.

Comparison of the accuracy of neutrophil CD64 and C-reactive protein as a single test for the early detection of neonatal sepsis / 소아과

PURPOSE: Early identification of neonatal sepsis is a global issue because of limitations in diagnostic procedures. The objective of this study was to compare the diagnostic accuracy of neutrophil CD64 and C-reactive protein (CRP) as a single test for the early detection of neonatal sepsis. METHODS: A prospective study enrolled newborns with documented sepsis (n=11), clinical sepsis (n=12) and control newborns (n=14). CRP, neutrophil CD64, complete blood counts and blood culture were taken at the time of the suspected sepsis for the documented or clinical group and at the time of venipuncture for laboratory tests in control newborns. Neutrophil CD64 was analyzed by flow cytometry. RESULTS: CD64 was significantly elevated in the groups with documented or clinical sepsis, whereas CRP was not significantly increased compared with controls. For documented sepsis, CD64 and CRP had a sensitivity of 91% and 9%, a specificity of 83% and 83%, a positive predictive value of 83% and 33% and a negative predictive value of 91% and 50%, respectively, with a cutoff value of 3.0 mg/dL for CD64 and 1.0 mg/dL for CRP. The area under the receiver-operating characteristic curves for CD64 index and CRP were 0.955 and 0.527 (P<0.01), respectively. CONCLUSION: These preliminary data show that diagnostic accuracy of CD64 is superior to CRP when measured at the time of suspected sepsis, which implies that CD64 is a more reliable marker for the early identification of neonatal sepsis as a single determination compared with CRP.

Congenital Hemangiopericytoma in the Retroperitoneum: A Case Report in a Newborn / 대한주산의학회잡지

Hemangiopericytoma is a rare vascular tumor that usually occurs in adults. The tumor is believed to originate from pericytes that are closely related to the capillary walls. Congenital hemangiopericytoma is a more rare disease that occurs in approximately 0.03% of all heamngiopericytomas. Herein, we describe a 1-month-old male newborn with huge congenital hemangiopericytoma in the retroperitoneum that exhibited a typical morphological vascular pattern.

Intrathyroidal Metastasis of Lung Adenocarcinoma Presenting as Subacute Thyroiditis

One of the rare diseases for differential diagnosis of subacute thyroiditis is metastases within the thyroid gland. We report here on a 72-year-old-woman with painful goiter and signs of hyperthyroidism. Her serum concentration of thyroid hormone was in the upper limit of normal, and the uptake of radioactive iodine by the thyroid was completely depressed. Although subacute thyroiditis was suspected, an additional work up that included a chest CT scan was done for the combined cough and chronic weakness. The result was lung cancer with metastatic involvement of the thyroid and multiple lymph nodes. She refused further anti-cancer therapy and died 5 months after the diagnosis. For the differential diagnosis of such a rare case, careful examination is important even in patients with the typical symptoms and laboratory findings of subacute thyroiditis.

A Case of Lesch-Nyhan Disease Manifesting Gouty Arthritis without Self-mutilation / 대한신장학회지

Lesch-Nyhan disease is a very rare X-linked recessive disorder characterized by mental retardation, spasticity resembling cerebral palsy, choreoathetosis, self-mutilation and hyperuricemia. Self-mutilative behavior is a hallmark of the disease. The underlying defect is a deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). We report on a fourteen-year-old boy, who manifested gouty arthritis and mild renal insufficiency with Lesch-Nyhan disease, lacking self-mutilative behavior in spite of undetectable HPRT activity. Though there were several reports about some cases of Lesch-Nyhan disease in the past Korean literature, the cases were classic forms with definite neurological manifestation. As far as we know, this is the first case of Lesch-Nyhan disease without self-mutilation in Korea.

Diagnosis and management of primary malignant melanoma of the lung: a case report / 대한내과학회지

Melanoma develops in the skin or the mucosa of organs. It spreads via lymphatic channels or the bloodstream to the regional lymph nodes or organs such as the brain, liver, and lung. Melanoma of the lung is nearly always metastatic, and primary malignant melanoma of the lung is very rare, with only 30 cases reported in the English literature. The possibility of skin lesions that have disappeared, or of undetected primary sites, makes it difficult to confirm true primary tumors. Therefore, a thorough workup is needed to make the diagnosis. Since metastatic melanoma is incurable, the goal of treatment is palliation. However, because of the rare experience of primary melanoma of the lung, it is difficult to predict the prognosis. We experienced one patient with primary malignant melanoma of the lung with metastases who had been managed with surgery, interferon-alpha, chemotherapy, and radiation therapy over 5 years. This case report presents the diagnosis and management of primary malignant melanoma of the lung.

A Case of Hypersensitivity Pneumonitis Following Placenta Extract Injection / 결핵및호흡기질환

Human placenta contains various kinds of nutritional elements essential for embryonic development. Currently, human placenta extracts are widely overused in Korea to improve certain health conditions (postmenopausal syndrome, liver function, and cosmetic purposes) without scientific evidence that they actually work. The use of placenta extracts should be restricted, due to a lack of systematic research on the therapeutic effectiveness and adverse results from these treatments. While the common adverse effects that have been reported are fever, rash, itching, nausea, vomiting, breast pain, and rare cases of anaphylactic shock, there have been no reports of pulmonary complications such as hypersensitivity pneumonitis. Recently, we experienced a patient with hypersensitivity pneumonitis following a placenta extract injection. To our knowledge, this is the first case of hypersensitivity pneumonitis associated with placenta extract use.

A Case of Wernicke's Encephalopathy Occurring in a Patient with Aspiration Pneumonia: A Case Report / 대한구급학회지

Wernicke's encephalopathy is a neurologic complication of thiamine deficiency, presenting with acute confusion, oculomotor dysfunction, and gait ataxia. While most often associated with chronic alcoholism, Wernicke's encephalopathy occasionally occurs in the setting of poor nutritional status, such as malabsorption, increased metabolic requirements, or increased loss of the water-soluble vitamins. Patients with critical illnesses can present with excessive catabolic status because of activation of the sympathetic nervous system and the pituitary-adrenal axis. In addition, inappropriate nutritional evaluation and lack of concerns for adequate nutrient support can increase the morbidity and mortality in such patients. However, the importance of adequate nutritional support is often disregarded during treatment of the patient's primary illness. We have recently managed a patient with Wernicke's encephalopathy and pneumonia who did not receive adequate nutritional support during hospitalization. We report this case to call attention to the importance of nutritional support in critically ill patients.