A Case of a Girl with Arnold-Chiari Type 1 Malformation with Precocious Puberty / 가정의학회지

A small percentage of individuals have the neurological anomaly of central precocious puberty (CPP). Common neurologic causes of CPP include a tumor or congenital lesions. Although Arnold-Chiari malformation can be caused by congenital or acquired causes, it is unusual in patients with CPP. We present the case of a girl aged 4.5 years who complained of breast budding. Her neurological examination and growth pattern were normal. She had no endocrinological abnormality, except for true precocious puberty. We performed brain magnetic resonance imaging, which showed an Arnold-Chiari type 1 malformation. Currently, this case represents the youngest girl who exhibited both Arnold-Chiari type 1 malformation and precocious puberty. Furthermore, it is likely that there is a meaningful association between the brain lesion and precocious puberty in this case.

Erratum: Addition of Co-Authors: Up-regulation of IGF Binding Protein-3 Inhibits Colonic Inflammatory Response

The authors regret that two co-authors were missing in the article.

Up-regulation of IGF Binding Protein-3 Inhibits Colonic Inflammatory Response

BACKGROUND: The aggravating factors still remained unclear in inflammatory bowel disease (IBD). Despite many different therapeutic approaches, many patients do not respond to the therapy. The anti-inflammatory effect of insulin-like growth factor-binding protein-3 (IGFBP-3) was suggested because of its capability of nuclear factor-κB (NF-κB) signaling inhibition. Therefore, we hypothesized that the up-regulation of IGFBP-3 would inhibit an inflammatory process. METHODS: Lipopolysaccharides (LPS) treated intestinal epithelial cell 6 (IEC-6) and dextran sodium sulfate (DSS) induced colitis mice were used as colitis models. Exogenous IGFBP-3 expression was accomplished using the adenoviral vector system expressing IGFBP-3 (Ad/IGFBP-3). The inflammatory responses and relevant cellular responses in IEC-6 cells influenced by IGFBP-3 expression were evaluated by western blotting, 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay, and reactive oxygen species (ROS) measurement. The severity of colitis was evaluated with the colon tissues of DSS-induced mouse model. RESULTS: We found that the IGFBP-3 expression reduced the production of inflammatory cytokines (cyclooxygenase-2, interleukin-1β, tumor necrosis factor-α) and ROS formation. IGFBP-3 expression also induced cell viability and inhibited NF-κB activation. In line with this data, the severity of DSS-induced mouse colitis was greatly ameliorated by the treatment of IGFBP-3 expressing adenoviral particles characterized with less weight loss and preserved colon length compared with the mice treated with DSS alone. The histopathology of the colon showed the reducing signs of colitis in Ad/IGFBP-3 treated DSS-mice group. CONCLUSION: Therefore, our data suggest that Ad/IGFBP-3 up-regulation reduces colonic inflammatory response as a novel therapeutic protocol for IBD.

Successful Treatment of Erdheim-Chester Disease with Multisystemic Involvement in a 4-year-old Child by Interferon-α and Corticosteroid / 임상소아혈액종양

Erdheim-Chester disease (ECD) is a rare form of proliferative non-Langerhans cell histiocytosis that involves multiple organs and is associated with a high mortality. The prognosis of ECD is variable, and it mainly depends on the involved anatomic sites. The treatment modalities have not been standardized, but interferon-α (IFN-α) has been reported to be effective in the management of ECD. ECD usually affects middle aged individuals with a slight male predominance but is extremely rare in children. We present an uncommon case of a 4-year-boy diagnosed with ECD who was treated with IFN-α and corticosteroid. He remained disease-free for 3 years after the completion of treatment.

Successful Treatment of Erdheim-Chester Disease with Multisystemic Involvement in a 4-year-old Child by Interferon-α and Corticosteroid / 임상소아혈액종양

Erdheim-Chester disease (ECD) is a rare form of proliferative non-Langerhans cell histiocytosis that involves multiple organs and is associated with a high mortality. The prognosis of ECD is variable, and it mainly depends on the involved anatomic sites. The treatment modalities have not been standardized, but interferon-α (IFN-α) has been reported to be effective in the management of ECD. ECD usually affects middle aged individuals with a slight male predominance but is extremely rare in children. We present an uncommon case of a 4-year-boy diagnosed with ECD who was treated with IFN-α and corticosteroid. He remained disease-free for 3 years after the completion of treatment.

A Case of Cap Polyposis with Epidermal Nevus in an Infant

Cap polyposis is extremely rare in children. We report a case of an 11-month-old male infant who visited our hospital because of rectal prolapse and small amount of hematochezia lasting several days. He also had an epidermal nevus in the sacral area. Colonoscopy showed erythematous, multilobulated, circumferential, polypoid lesions with mucoid discharge from the rectum. He was diagnosed with cap polyposis by endoscopy and histologic examination. He was treated with surgical resection, and was closely followed up. In the relevant literature, there is no report of cap polyposis in an infant. We report the first case of cap polyposis in the youngest infant.

Clinical and Laboratory Characteristics of Pediatric Diabetic Ketoacidosis: A Single-Center Study / 임상당뇨병

BACKGROUND: Diabetic ketoacidosis (DKA) is an acute complication of pediatric type 1 diabetes mellitus (T1DM). We aimed to determine the risk factors and clinical characteristics of children and adolescents with DKA. METHODS: We retrospectively evaluated 59 episodes of DKA in 43 patients who were hospitalized for DKA between January 2006 and December 2015. DKA was classified as mild, moderate, or severe, according to patient history of DKA. The clinical and laboratory characteristics of these subgroups were compared. RESULTS: The average patient age was 11.98 ± 4.40 years (range, 1.3~17.9 years). Moderate episodes were the most common, with 21 episodes (35.6%), followed by 19 severe (32.2%) and 19 mild episodes (32.2%). Significant differences were observed between the subgroups regarding their characteristics of aggravated. Severe DKA episodes were more often observed during the winter season. Recurrent DKA cases were determined in 31 episodes (52.5%) who were significantly older, had higher body mass index, and lower serum C-peptide levels than the newly diagnosed DKA group. Female patients experienced severe and moderate cases more frequently (P = 0.041), which included two deaths. Only blood glucose levels were significantly higher in these fatal cases (P = 0.022). CONCLUSION: Even among the patients who had previously experienced DKA and older children with low serum C-peptide levels, there was no reduction in the severity of DKA. We recommend that patients with DKA be carefully treated and continuously informed regarding the importance of maintaining proper blood glucose levels, regardless of their previous history of DKA, age, or regularity of insulin therapy.

Delayed Diagnosis of Falciparum Malaria with Acute Kidney Injury

Prompt malaria diagnosis is crucial so antimalarial drugs and supportive care can then be rapidly initiated. A 15-year-old boy who had traveled to Africa (South Africa, Kenya, and Nigeria between January 3 and 25, 2011) presented with fever persisting over 5 days, headache, diarrhea, and dysuria, approximately 17 days after his return from the journey. Urinalysis showed pyuria and hematuria. Blood examination showed hemolytic anemia, thrombocytopenia, disseminated intravascular coagulation, and hyperbilirubinemia. Plasmapheresis and hemodialysis were performed for 19 hospital days. Falciparum malaria was then confirmed by peripheral blood smear, and antimalarial medications were initiated. The patient's condition and laboratory results were quickly normalized. We report a case of severe acute renal failure associated with delayed diagnosis of falciparum malaria, and primary use of supportive treatment rather than antimalarial medicine. The present case suggests that early diagnosis and treatment is important because untreated tropical malaria can be associated with severe acute renal failure and fatality. Physicians must be alert for correct diagnosis and proper management of imported tropical malaria when patients have travel history of endemic areas.

Rare Case of Primary Gastric Burkitt Lymphoma in a Child / 대한소화기학회지

Primary gastric tumors are very rare in children. Burkitt lymphoma is a common type of non-Hodgkin's lymphoma, and gastric Burkitt lymphoma usually occurs in the aged. When involving the gastrointestinal tract, primary gastric Burkitt lymphoma is very rare in younger childhood. Many gastric lymphomas including mucosa-associated lymphoid tissue lymphoma are associated with Helicobacter pylori infection or acute bleeding symptom. We report a seven-year-old boy who presented with only some vomiting and postprandial pain. His upper gastrointestinal endoscopy and biopsy revealed a large primary Burkitt lymphoma with no acute bleeding and no evidence of H. pylori infection. After chemotherapy, he remains in remission.

Congenital Thoracic Ectopic Kidney associated with Diaphragmatic Hernia in a 15-month-old Boy

Congenital thoracic ectopic kidney is a very rare developmental disorder and the rarest type of ectopic kidney. This condition is usually asymptomatic and detected incidentally on routine chest radiography. Most cases of thoracic ectopic kidney develop in adulthood and during the neonatal period, and congenital thoracic ectopic kidney rarely develops in children. Most patients are asymptomatic, and the treatment depends on the diagnosis. Herein, we report a rare case of ectopic thoracic kidney associated with a diaphragmatic hernia in a 15-month-old male infant, who presented with periodic severe irritability. The thoracic ectopic kidney was detected as a mass in the right base of the chest on routine chest radiography.

Two Cases of Multiple Endocrine Neoplasia Type II with RET Mutaion / 임상소아혈액종양

Multiple endocrine neoplasia type 2(MEN2) is a rare autosomal dominant inherited disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma and other hyperplasia and/or neoplasia of different endocrine tissues in a single patient. MEN 2 is caused by germline mutations in the RET proto-oncogene is located on the pericentromeric region of chromosome 10 (10q11.2). We present our experience with two rare cases of MEN 2, an 11-years-old girl and a 10-years-old boy. Their parents had medullary thyroid carcinoma and genetic analysis showed the missense mutation of RET. They were screened for mutations in the RET proto-oncogene and RET mutations were found at codons 634 and 641. They were asymptomatic state but the girl had prophylactic total thyroidectomy. Children of families with RET mutations may develop early cancers and require prophylactic thyroidectomy before eight years.

Inhibition of L-type calcium currents by magnesium sulfate on the rat basilar artery smooth muscle cells

Objective: Vasospasm remains the leading cause of cerebral damage after aneurysmal subarachnoid hemorrhage. Although magnesium regulates the calcium influx in vascular smooth muscle and endothelial cells, it has not been reported whether L-type calcium channels are involved in magnesiuminduced vascular relaxation in rat basilar artery. So, the effect of magnesium sulfate on L-type calcium currents in freshly isolated smooth muscle cells from rat basilar artery was investigated. Methods: The smooth muscle cells were isolated from rabbit basilar artery by enzyme treatment. L-type Ca2+ currents were identified using cesium chloride, a potassium channel blocker and Bay K8644, an activator of L-type Ca2+ channel. Currents were recorded under step pulse whole cell patch clamp technique. Results: In the presence of cesium chloride (in pipette solution), inward currents were observed by depolarizing step pulses. The inward currents were significantly reduced by nimodipine (n=4, p<0.05), an L-type Ca2+ channel blocker and increased by Bay K8644 (n=5, p<0.05), an L-type Ca2+ channel activator. The L-type calcium currents (156±17.0 pA, n=12) were significantly reduced by the application of 5 mM magnesium sulfate (53.8±7.0 pA, n=12, p<0.01). Conclusion: These results suggest that magnesium may relax cerebral vessel of rat basilar artery through decreasing intracellular Ca2+ ion by inhibition of L-type Ca2+ channels.

Two Cases of Multiple Endocrine Neoplasia Type II with RET Mutaion / 임상소아혈액종양

Multiple endocrine neoplasia type 2(MEN2) is a rare autosomal dominant inherited disorder characterized by the presence of medullary thyroid carcinoma, pheochromocytoma and other hyperplasia and/or neoplasia of different endocrine tissues in a single patient. MEN 2 is caused by germline mutations in the RET proto-oncogene is located on the pericentromeric region of chromosome 10 (10q11.2). We present our experience with two rare cases of MEN 2, an 11-years-old girl and a 10-years-old boy. Their parents had medullary thyroid carcinoma and genetic analysis showed the missense mutation of RET. They were screened for mutations in the RET proto-oncogene and RET mutations were found at codons 634 and 641. They were asymptomatic state but the girl had prophylactic total thyroidectomy. Children of families with RET mutations may develop early cancers and require prophylactic thyroidectomy before eight years.

Ecthyma Gangrenosum Caused by Klebsiella Pneumoniae in Immunocompromised Patient Associated with Severe Aplastic Anemia / 임상소아혈액종양

Ecthyma gangrenosum (EG) is a skin infection that is classically associated with Pseudomonas aeruginosa septicemia in immunocompromised patients with severe neutropenia. Other bacterial, viral, and fungal pathogens also have been implicated in EG. EG is rare condition with characteristic clinical appearance of red macule that progresses to a central area presenting a necrotic black or gray-black eschar with surrounding erythema. The skin lesions usually occur in the gluteal and perineal regions or extremities and widespread over the body. Although the usual outcome is poor, early recognition and appropriate systemic antibiotic treatment can lead to successful outcome. Therefore, we describe a case of EG associated with Klebsiella pneimoniae in a 15-year-old patient with severe aplastic anemia and review the literature.

Abdominal Fibromatosis in a Young Child: A Case Study and Review of the Literature

Fibromatoses comprise many different entities of well-differentiated fibroblastic proliferation with variable collagen production and form a firm nodular mass. Abdominal fibromatosis is distinguishable from other forms of fibromatosis because of its location and its tendency to occur in women of childbearing age during or following pregnancy. Abdominal fibromatosis in children is an extremely rare condition. A 15-month-old boy presented with an abdominal wall mass that had recently increased in size. Mass excision was perfomed. The tumor was 4.3x4.1 cm and partly circumscribed. Histologically, the tumor was composed of parallel long fascicles of spindle-cells with a uniform appearance. The edges of the resected mass were infiltrative, and the surgical margins were positive. Mitotic figures were <1/10 high power fields. No cellular atypia or necrosis was present. The tumor cells were positive for vimentin and nuclear beta-catenin staining.

Ecthyma Gangrenosum Caused by Klebsiella Pneumoniae in Immunocompromised Patient Associated with Severe Aplastic Anemia / 임상소아혈액종양

Ecthyma gangrenosum (EG) is a skin infection that is classically associated with Pseudomonas aeruginosa septicemia in immunocompromised patients with severe neutropenia. Other bacterial, viral, and fungal pathogens also have been implicated in EG. EG is rare condition with characteristic clinical appearance of red macule that progresses to a central area presenting a necrotic black or gray-black eschar with surrounding erythema. The skin lesions usually occur in the gluteal and perineal regions or extremities and widespread over the body. Although the usual outcome is poor, early recognition and appropriate systemic antibiotic treatment can lead to successful outcome. Therefore, we describe a case of EG associated with Klebsiella pneimoniae in a 15-year-old patient with severe aplastic anemia and review the literature.

Clinical and hematologic manifestations in patients with Diamond Blackfan anemia in Korea

BACKGROUND: Diamond Blackfan anemia (DBA), characterized by impaired red cell production, is a rare condition that is usually symptomatic in early infancy. The purpose of this study was to assess nationwide experiences of DBA encountered over a period of 20 years. METHODS: The medical records of 56 patients diagnosed with DBA were retrospectively reviewed from November 1984 to July 2010. Fifteen institutions, including 13 university hospitals, participated in this study. RESULTS: The male-to-female ratio of patients with DBA was 1.67:1. The median age of diagnosis was 4 months, and 74.1% were diagnosed before 1 year of age. From 2000 to 2009, annual incidence was 6.6 cases per million. Excluding growth retardation, 38.2% showed congenital defects: thumb deformities, ptosis, coarctation of aorta, ventricular septal defect, strabismus, etc. The mean hemoglobin concentration was 5.1+/-1.9 g/dL, mean corpuscular volume was 93.4+/-11.6 fL, and mean number of reticulocytes was 19,700/mm3. The mean cellularity of bone marrow was 75%, with myeloid:erythroid ratio of 20.4:1. After remission, 48.9% of patients did not need further steroids. Five patients with DBA who received hematopoietic transplantation have survived. Cancer developed in 2 cases (3.6%). CONCLUSION: The incidence of DBA is similar to data already published, but our study had a male predilection. Although all patients responded to initial treatment with steroids, about half needed further steroids after remission. It is necessary to collect further data, including information regarding management pathways, from nationwide DBA registries, along with data on molecular analyses.

Two Cases of Infant-onset Cutaneous Mastocytosis / 임상소아혈액종양

Mastocytosis is a rare disease in infants and children that characterized by a pathologic increase and accumulation of mast cells in one or more organs. Cutaneous mastocytosis is a typical presentation of pediatric-onset mastocytosis and often presents classical symptoms and signs related with mast cell mediator including pruritus, flushing, abdominal pain and Darier's sign. We present our experience with two rare cases of cutaneous mastocytosis, a 3-month-old boy and a 4-month-old boy. The former had a recurrent single brownish plaque with yellowish bullae in right forearm without any other symptom or sign. The latter had multiple brownish plaques in his trunk and extremities with intermittent diarrhea and Darier's sign. In each, a punch biopsy confirmed the diagnosis of solitary mastocytoma and urticaria pigmentosa. After 2weeks of anti-histamine and leukotriene antagonist therapy for symptom relief, both infants had no remnant skin lesion or symptoms.

Two Cases of Infant-onset Cutaneous Mastocytosis / 임상소아혈액종양

Mastocytosis is a rare disease in infants and children that characterized by a pathologic increase and accumulation of mast cells in one or more organs. Cutaneous mastocytosis is a typical presentation of pediatric-onset mastocytosis and often presents classical symptoms and signs related with mast cell mediator including pruritus, flushing, abdominal pain and Darier's sign. We present our experience with two rare cases of cutaneous mastocytosis, a 3-month-old boy and a 4-month-old boy. The former had a recurrent single brownish plaque with yellowish bullae in right forearm without any other symptom or sign. The latter had multiple brownish plaques in his trunk and extremities with intermittent diarrhea and Darier's sign. In each, a punch biopsy confirmed the diagnosis of solitary mastocytoma and urticaria pigmentosa. After 2weeks of anti-histamine and leukotriene antagonist therapy for symptom relief, both infants had no remnant skin lesion or symptoms.

Pituitary Hyperplasia Secondary to Hypothyroidism Caused by Hashimoto's Thyroiditis in a Female Adolescent / 대한소아내분비학회지

The authors report a case of a 16-year-old girl with pituitary hyperplasia and primary hypothyroidism caused by Hashimoto's thyroiditis. She presented with growth arrest, and hormonal studies showed decreased level of free thyroxine (T4), and increased levels of thyroid-stimulating hormone (TSH) and prolactin. A pituitary magnetic resonance imaging (MRI) showed a suprasellar mass. After 2 months of thyroxine replacement, thyroid function and high prolactin levels normalized, and the pituitary hyperplasia disappeared. This case represents relatively rapid normalization of pituitary hyperplasia, compare to the previous studies.