Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A newborn girl with hemorrhagic purpura, suspected neonatal sepsis, and pale and dry skin was lethargic with remarkable hepatosplenomegaly, convergent strabismus, severe anemia, and elevated alkaline phosphatase activity. Radiographs showed a generalized increase in bone density, small medullary cavities, sclerosis of the skull and vertebrae, transverse wavy stripes of sclerotic bone in the metaphyses, and bone-in-bone appearance in phalanges of hands and feet. On this basis, she was diagnosed with malignant infantile osteopetrosis. On the first day of life, the infant was given a blood transfusion and vitamin K (1 mg intravenously [iv]). Corticosteroid therapy was started with prednisone (2 mg/kg per day). She showed marked improvement of symptoms. On the 26th day and 42nd day of life, she received additional blood transfusions. On the 49th day, the patient was discharged and corticosteroid therapy was continued at a regimen of 5 mg/day. Subsequent blood sample analyses revealed normal values for age. At 1 year of life, a bone marrow sample showed normal white and red cell lineages. X-ray confirmed attenuation of the bone sclerosis; therefore, bone marrow transplantation (BMT) was not implemented. At the age of 1.5 years, prednisone therapy was discontinued gradually and withdrawn before the age of 2 years. Subsequent follow-up showed normalization of all radiological and hematologic parameters. At present, the patient is 3 years old and appears healthy with apparently complete regression of the disease.
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PMID:Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy. 1176 Aug 52

Two pet rabbits were presented with an acute decrease in appetite and activity. Rabbit 1 showed severe hypothermia, bradycardia, arrhythmias, a heart murmur, dyspnea, occlusion of the nares with secretions, icterus, dehydration, and gaseous gastrointestinal dilation. The urine was dark yellow. Rabbit 2 was overweight, apathetic, and dehydrated; this animal presented with a heart murmur, gastric dilation, and intermittent nystagmus with dorsal strabismus in the right eye. Blood gas, electrolyte, hematology, plasma clinical biochemistry analysis, coagulation profile, plasma protein electrophoresis, urinalysis, and radiographic examinations were performed. The main shared findings were moderate thrombocytopenia, markedly decreased aspartate aminotransferase and alanine aminotransferase activities and fibrinogen concentrations, prolonged prothrombin and activated partial thromboplastin times, profoundly increased alkaline phosphatase and gamma-glutamyl transferase (GGT) activities, and high bile acid and bilirubin concentrations. Rabbit 1 also had respiratory acidosis, marked hypoglycemia, hyperphosphatemia, and a profoundly increased creatine kinase activity. Gastric dilation was observed on both radiographic exams. A low urinary pH of 5-6, marked bilirubinuria and proteinuria, and high urinary GGT levels were present in both patients. Marked icterus developed before death, which occurred within 22 and 30 hours post admission in rabbits 1 and 2, respectively. The necropsy of rabbit 1 showed a markedly accentuated hepatic lobular pattern, pulmonary hemorrhages, pericardial effusion with adhesions, peritoneal petechiae, and icteric and hemorrhagic abdominal fat. Histopathologic findings included hemorrhagic diathesis, severe centroacinar and midzonal hepatocellular necrosis, severe necrosuppurative bronchopneumonia, and moderate cardiomyocyte necrosis. A liver PCR assay was positive for Rabbit Hemorrhagic Disease Virus (RHDV) 2 (RHDV2) and negative for classic RHDV. This is the first description of the gross clinicopathologic abnormalities associated with naturally occurring RHDV2 infection in pet rabbits.
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PMID:Clinicopathologic findings of naturally occurring Rabbit Hemorrhagic Disease Virus 2 infection in pet rabbits. 3086 86

Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane-bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bi-allelic PIGH variants, including one new variant p.(Arg163Trp) which seems associated with a more severe phenotype. The common clinical features in all affected individuals are developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures, multiple bone fractures, scoliosis, loss of independent ambulation, and delayed myelination on brain MRI. Serum iron levels were significantly elevated in one individual. All tested individuals with PIGH deficiency had normal alkaline phosphatase and CD16, a GPI-anchored protein (GPI-AP), was found to be decreased by 60% on granulocytes from one individual. This study expands the PIGH deficiency phenotype range toward the severe end of the spectrum with the identification of a novel pathogenic variant.
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PMID:PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. 3315 47