Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Niemann-Pick disease (NPD) type B was diagnosed clinically and enzymatically in a 5-year-old girl presenting with failure to thrive, hepatosplenomegaly, diffuse interstitial infiltration of both lungs on chest roentgenograms, cherry red spot, and foam cells in the bone marrow aspirate. Intelligence and neurological examination were normal, sphingomyelinase activity was severely deficient in cultured skin fibroblasts. We present the first case of NPD type B in Taiwan and relevant literatures were reviewed.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Niemann-Pick disease type B with ocular involvement: report of a case. 177 42

There were altogether 68 patients suffered from beta-thalassemia in the Veterans General Hospital from 1979 to 1986. However only 18 patients had abnormal roentgenologic findings. They were 7 males and 11 females. Their ages ranged from 8 months to 47 years with an average of 13 years. Clinically beta-thalassemia was divided into 3 types: 1) thalassemia major, 2) thalassemia intermediate, 3) thalassemia minor. The osteoporosis, hepatosplenomegaly, and extramedullary hematopoiesis with pseudo-tumor formation. We concluded that the roentgenologic manifestation of the patient was more in patients with major or intermediate type.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[The relationship of clinical severity and roentgenologic findings in beta thalassemia]. 227 71

Disseminated cryptococcosis is a rare and often fatal disease in children. The majority of cases usually occur in individuals with defective cell-mediated immunity. We herein reported a 10-year-old boy who presented with fever, body weight loss, lymphadenopathy and marked hepatosplenomegaly. He was admitted under the impression of Hodgkin's disease. However lymph node biopsy revealed diffuse infiltration with polynuclear giant cell and macrophage. Numerous ovoid-shaped microorganisms were found in the cytoplasma of those cells. Cultures of blood, CSF, lymph node, bone marrow and urine all yielded cryptococcus neoformans. The cryptococcal antigen titer of blood was 1:1024 X and that of CSF was 1:64 X. The immune function in terms of T-cell number, mitogen responses, serum immunoglobulin and complement was normal. After the diagnosis of disseminated cryptococcosis was established, the patient was treated with amphotericin B (0.6 mg/kg/day) and 5-fluorocytosine (150 mg/kg/day) for 6 weeks. The patient responded to the treatment very well. Lymphadenopathy and hepatospelomegaly disappeared and no more recurrence was found during the follow-up period of more than 18 months.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[Disseminated cryptococcosis mimicking lymphoreticular malignancy: report of one case]. 227 79

A 6-year-old girl with cerebral palsy developed conscious disturbance and generalized convulsion after one-hour hot herb drug bath. Physical examination on admission revealed rectal temperature 41 degrees C, hot skin, respiration 46/min, regular heart beat 98/min, BP 130/60 mmHg, Glascow coma scale 4 (E2M1V1), soft and flat abdomen, no hepatosplenomegaly, no skin rash, no focal neurological sign, increased generalized muscle ton. Laboratory data showed CBC: WBC 20400 cumm (Neutrophils 31%, Lymphocytes 69%), Hb 11.6gm%, ESR 11 mm/hr, arterial blood gas: PH 7.077, PO2 43mmHg, PCO2 57.1mmHg, HCO3- 16 mEq/L, BE-11.5mEq/L, serum sodium 143 mEq./L, potassium 5.2 mEq/L, chloride 101 mEq/L, free calcium ion 3.8mg%, GOT 63IU/L, GPT 263 IU/L, amylase 193 IU/L, alkaline phosphatase 388 IU/L, LDH 1245 IU/L, CPK 677 IU/L, total bilirubin 0.8 mg/dl, direct type 0.1 mg/dl, BUN 18 mg/dl, Glucose 35 mg/dl. Urinalysis revealed proteinuria( ) trace hematuria and pyuria, but no cast. Lumbar puncture is within normal limits. Bacteriology including blood and CSF are normal. Multiple organ failure was noted at that time. Intensive cooling methods were performed including central and peripheral cooling. We used luminal and valium to control the seizure. Condition didn't improve. Afterwards cardiopulmonary arrest developed. Patient expired 8 hours after admission despite of resuscitation. Heat stroke in infancy and childhood is different from that in adulthood. The predisposing factors are high ambient temperature, dehydration, very young baby, sweat gland dysfunction, or ectodermal dysplasia. Definition of heat stroke includes 1) rectal temperature above 41 degrees C, 2) behavioral change, 3) warm skin, wet or dry.(ABSTRACT TRUNCATED AT 250 WORDS)
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:[Status epilepticus induced by prolonged immersion in hot herb bath: report of one case]. 263 19

A three-month old Chinese male infant was a victim of neonatal hepatitis presenting with prolonged jaundice, poor body weight gain, progressive hepatosplenomegaly and extremely elevated serum alpha-fetoprotein level. Niemann-Pick disease (NPD) type C was confirmed by autopsy, which revealed sphingolmyelin deposition in multiple visceral organs, and normal sphingomyelinase activity in liver. This is the first case of NPD type C in Taiwan. In idiopathic neonatal hepatitis with hepatosplenomegaly here, NPD type C must be taken into consideration.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Niemann-Pick disease type C presenting as neonatal hepatitis: report of one case. 761 76

A one and half a month-old infant, a female, was brought to this hospital with the chief problem of diarrhea lasting for more than one week. Four days after admission, symmetric and nonpruritic lichenoid papules developed over her face and limbs. Physical examination showed several small palpable lymph nodes over the bilateral inguinal areas, but without hepatosplenomegaly. Gianotti-Crosti syndrome was diagnosed. Latter on, cytomegalovirus (CMV) was isolated from urine and throat swab. It seemed that this case of Gianotti-Crosti syndrome was associated with CMV infection.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Gianotti-Crosti syndrome associated with cytomegalovirus infection: report of one case. 779 81

Hospital records of seventeen patients (11 males & 6 females) with Langerhans cell histiocytosis, confirmed by electron microscopic demonstration of Birbeck granules, were studied retrospectively from October 1982 to October 1992 at Taichung Veterans General Hospital. The ages at presentation ranged from 5 months to 17 years (a median of 6 years). The clinical features were protean and included fever, pain, bony lesions, lung lesions, abnormal dentition, diabetes insipidus, oral ulcer, otorrhea, dermatitis, anemia, thrombocytopenia, lymphadenopathy, and hepatosplenomegaly. Skull and femur were the most common sites of bony lesions. The main therapeutic modalities were excision, radiotherapy, and chemotherapy with vincristine and prednisolone. The young age at presentation, several involved organ systems, presence of organ dysfunction, and clinical diagnosis with Letterer-Siwe disease were poor prognostic factors. Although Langerhans cell histiocytosis is not a rare disease, the cause is still unknown. It needs further research to disclose the mystery.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Langerhans cell histiocytosis: a 10-year review. 794 24

A female newborn was delivered prematurely at gestational age of 26 weeks with birth weight of 1,000 grams. Her initial white blood cell count was 68,900/mm3, which increased to 207,000/mm3 on the fifth day of life with a remarkable shift-to-left pattern. The most immature myeloid series in the peripheral blood smear was promyelocyte; and the promyelocyte, myelocyte and meta-myelocyte accounted for 38% of the peripheral white blood cells. Neither hepatosplenomegaly nor skin rash was noted, but the platelet count dropped to 86,000/mm3 transiently on Day 8. Cytogenetic study for the bone marrow aspiration revealed normal results. The leukemoid reaction recovered within three weeks without specific treatment. Antenatal usage of steroid to promote lung maturation was considered to be one possible cause of the transient leukemoid reaction.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Transient leukemoid reaction in an extremely premature neonate. 804 7

An 8-year-old girl was admitted because of high fever and cough for seven days. The physical examination on admission revealed diffuse moist rales over the left lung field. Her high fever persisted, and she subsequently developed hepatosplenomegaly, lymphadenopathy, skin rashes, subconjunctival hemorrhage, diffuse pulmonary infiltrates, abnormal liver function, anemia, thrombocytopenia, leukocytosis, and hypoalbuminemia. A bone marrow study revealed increased numbers of macrophages with apparent hemophagocytosis. She developed respiratory failure and required artificial ventilation, but finally died despite resuscitative efforts. Serology for EB virus initially revealed negative findings, but on the 24th day after admission, showed IgG antibody to viral capsid antigen 320x (+), and IgM antibody to viral capsid antigen (+). This is a very unusual case of fatal EB virus pneumonia associated with hemophagocytic syndrome.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Epstein-Barr virus pneumonia associated with hemophagocytic syndrome: report of one case. 808 55

Enterovirus infection has been recognized as one of the most common viral infections in the perinatal and neonatal periods. It frequently leads to significant mortality. One fatal case of neonatal enteroviral infection was experienced in last year. The patient was a one-day-old male, presenting with neonatal sepsis. He has a biphasic illness, first with a mild febrile prodrome then followed by severe systemic involvement, with meningitis, myocarditis, hepatosplenomegaly and disseminated intravascular coagulation. All bacterial cultures were negative, but the rectal swab isolated enterovirus. The echocardiogram revealed depressed cardiac function, and he finally expired at the age of 10 days. The autopsy findings supported the diagnosis of perinatal enteroviral infection (coxsackievirus B infection was highly suspected). Clinically, if a neonate presents as sepsis, but has the following conditions, enteroviral infection should be considered: (1) negative bacterial cultures; (2) multiple organ involvement; (3) proven enteroviral infection in the same nursery or ward; (4) a mild febrile illness in the mother within the last antepartum 10 days or the first postpartum 5 days; (5) any family members with fever or signs of upper respiratory infection within 15 days before delivery.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Fatal enteroviral infection in a neonate. 829 63


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