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)

We describe 3 children with a progressive encephalopathy that was characterised by irritability, convulsions, cranial nerve palsies, ataxia, nystagmus, walking difficulties, delayed psychomotor development, hemiplegia/tetraplegia, visual disturbance, vomiting, neck stiffness, and non-specific signs of raised intracranial pressure. A final diagnosis was made in all 3 patients from necropsy material. The clinical features were ascribed to multiple inflammatory, predominantly lymphocytic, reactions and raised intracranial pressure. This condition is an atypical form of haemophagocytic lymphohistiocytosis, which normally presents with fever, hepatosplenomegaly, and cytopenias. By contrast, the disease pattern in our 3 children was dominated by cerebromeningeal involvement, which can precede the typical systemic symptoms of haemophagocytic lymphohistiocytosis. An awareness of this condition is important because treatments are available.
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PMID:Cerebromeningeal haemophagocytic lymphohistiocytosis. 134 23

A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later developed intractable convulsions and died at the age of 9 months.
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PMID:Miller-Dieker syndrome with ring chromosome 17. 171 6

A 9-month-old Turkish boy was diagnosed as having Griscelli disease (Chediak-Higashi-like syndrome). Clinical signs consisted of silver-grey hair and a relatively light skin colour, recurrent episodes of fever, with or without detectable infections, increasing hepatosplenomegaly, hypotonia and motor retardation. Laboratory studies showed pancytopenia of varying degree but neither inclusion bodies nor vacuoles were seen in his leucocytes. Serum immunoglobulin levels were normal except for a IgG2 deficiency. In the mixed lymphocyte reaction the stimulation capacity of the leucocytes was decreased. Microscopic examination of his hair and electron-microscopic examination of a skin biopsy further confirmed the diagnosis. Shortly before the diagnosis was made, the child developed cerebral symptoms with hemiparesis and convulsions. A CT scan suggested cell infiltration of the brain. A few weeks later the boy died of an infection.
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PMID:Griscelli disease with cerebral involvement. 182 34

A guideline for early diagnosis of metabolic disorders affecting central nervous system during neonatal and early infancy was presented. Clinical manifestations associated with inborn errors of metabolism in the neonatal period are poor feeding, vomiting, diarrhea, abnormalities in muscle tonus, dyspnea, convulsion, coma and so on, and these are not specific to each disorder. However, such symptoms or signs as described below have often intimate relation to metabolic disorders: (1) previous children died of undetermined causes during early infancy; (2) complication of sepsis; (3) onset in the early neonatal period; (4) developmental and growth retardation. When newborns and infants have these symptoms or signs, we should start simple screening studies immediately for metabolic disorders, including CBC, hepatic function tests, blood glucose, lactate, pyruvate, ketone bodies, ammonia, blood gas analysis, urinalysis (including non-glucose reducing substance tests and FeCl3 reaction) and so on. As for CBC, we have to make our own effort to find spherocytosis and vacuoles in lymphocytes. Family history, especially the mother's personal history, is indispensable. During physical examinations, we must pay attention to facial appearance, skin color, macroglossia, hair abnormalities, peculiar odor of the urine and hepatosplenomegaly. When abnormality is found in these clinical signs or simple laboratory examinations, we should not hesitate to start dietary treatment even if special examinations for differential diagnosis are on the way.
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PMID:[CNS disorders caused by metabolic disorders]. 201 2

In a prospective, hospital-based study in North India, malaria accounted for 1.5% of paediatric outpatient attendances during 1 year. A marked increase in the prevalence of malaria was noted during the post-monsoon months. Plasmodium falciparum was the causative species in 44.4% of cases, contrary to previous reports of low prevalence of this parasite in the area. Pyrexia with or without chills or rigor, vomiting, pallor and hepatosplenomegaly were the common presenting clinical features. Splenic and hepatic enlargement were seen more frequently with P. vivax than P. falciparum infections (P less than 0.001 and P less than 0.01, respectively). Convulsions were present in 20% of cases.
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PMID:Clinical profile of malaria in children--a prospective study from Aligarh (N. India). 244 56

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)
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PMID:[Status epilepticus induced by prolonged immersion in hot herb bath: report of one case]. 263 19

A 19-year-old immunosuppressed male patient, after renal transplantation, developed at the 10th postoperative day (p.d.) fever, anemia hepatosplenomegaly and plaquetopenia; this condition deteriorated progressively and was complicated by drowsiness and generalized convulsions which persisted until the death at the 29th p.d. Autopsy revealed acute encephalitis characterized by multiple disseminated small lesions in the brain, containing cysts and trophozoites of Toxoplasma gondii. The diagnosis was not done during life, as occurred with most of previously reported cases, a fact that points to the necessity of preventive controlling measures of these patients before the institution of immunosuppressive measures.
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PMID:Cerebral toxoplasmosis after renal transplantation. Case report. 352 64

A 6 day old infant had neonatal lupus erythematosus manifested by rash, haemolytic anaemia, and hepatosplenomegaly. His mother was asymptomatic until eight months of pregnancy. Between 7 and 10 weeks he had recurrent seizures with hypocalcaemia. Other causes of convulsions were excluded. By 14 weeks various abnormalities had largely disappeared.
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PMID:Neonatal lupus erythematosus, late onset hypocalcaemia, and recurrent seizures. 363 26

Ten children, four males and six females, with malignant histiocytosis were treated from July 1980 to July 1984. None of them had an affected sibling with a similar disorder. Septic-type fever, hepatosplenomegaly, lymphadenopathy, pulmonary infiltration, and disseminated intravascular coagulation were common signs and symptoms, and convulsion occurred in four cases. The diagnosis was made from bone marrow smears in all cases. In five cases, biopsy or autopsy specimens confirmed the diagnosis. In five cases studied, proliferating histiocytes in lymph nodes were demonstrated to be S100 protein-positive. All patients were treated with adriamycin, cyclophosphamide, vincristine, and prednisone (ACOP). Complete response was achieved in four patients after two to three courses of ACOP, and another case attained complete remission after further drug treatment. The five complete responders are now alive without evidence of disease after 23-48 months from the onset. Among partial and no responders, four died within 3 months and one has been alive with disease for 2 months. Bone marrow aspiration is useful for prompt diagnosis, and early treatment with intensive combination chemotherapy improves the prognosis of malignant histiocytosis in childhood.
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PMID:Malignant histiocytosis in childhood. Clinical features and therapeutic results by combination chemotherapy. 379 30

Fourteen children, 4 males and 10 females, with malignant histiocytosis (MH) were treated between July 1980 and June 1986. None of them had an affected sibling with a similar disorder. Septic-type fever was the most prominent symptom in all cases. Hepatosplenomegaly was present in 13 cases, lymphadenopathy, skin rash and jaundice in 8, pulmonary infiltration or pleural effusion on chest X-ray in 8, convulsion in 6, and renal involvement in 5 out of the 14 cases. Disseminated intravascular coagulation (DIC) was seen in 13 cases and this occurred within two weeks from onset in 6 cases. Pancytopenia, abnormal results of liver function tests, hypofibrinogenemia and hypocholesterolemia were common. The diagnosis was made for all 14 cases by characteristic clinical symptoms, signs, and bone marrow findings. In 8 cases, biopsy or autopsy specimens confirmed the diagnosis. Two patients died prior to chemotherapy. Twelve patients were treated with adriamycin, cyclophosphamide, vincristine and prednisone (ACOP). Complete response (CR) was achieved in five patients, and another two patients attained CR after subsequent treatment with other combinations including VP 16-213. These 7 complete responders are now alive and free of disease 11+ to 70+ months (median, 50+ months) from the onset of disease. All partial and non-responders died within 6 months with a median survival of 20 days. Among several clinical features as prognostic indicators, renal involvement, convulsion, and DIC occurring within 2 weeks were significantly related to poor outcome. Although MH is an aggressive disease with a poor prognosis, prompt diagnosis and early treatment with intensive systemic combination chemotherapy should further improve the outcome.
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PMID:[Clinical features and therapeutic results in 14 cases of malignant histiocytosis in childhood]. 380 Apr 4


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