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801 Possible Causes for Rickets, Splenomegaly

  • Upper Respiratory Infection

    View Article PubMed Google Scholar Rehman PK: Sub-clinical rickets and recurrent infection. J Trop Pediatr. 1994, 40 (1): 58-10.1093/tropej/40.1.58-a.[] Approximately half of EBV mononucleosis cases involve generalized adenopathy or splenomegaly. An enlarged liver may also be palpable.[]

  • 3Beta-Hydroxy-Delta5-C27-Steroid Oxidoreductase Deficiency

    Clinical features include hepatomegaly with or without splenomegaly, jaundice, fat and fat-soluble vitamin malabsorption, and mild steatorrhea.[] The inability of the gastrointestinal tract to absorb adequate amounts of vitamin D results in rickets, while other symptoms, such as a hemorrhagic tendency due to vitamin[] […] diagnosed: 12 presented with infantile cholestasis (2.7%, 7 boys), an 8-year-old boy presented with cirrhosis, and two 18-month-old boys presented with hepatomegaly and rickets[]

  • Cystinosis

    The first patient developed signs of rickets, and the second patient was lost to follow-up and readmitted with chronic renal failure.[] […] cystine accumulation caused multiple endocrinopathies (including adrenal insufficiency, hypothyroidism and primary hypogonadism), neurological symptoms, pancytopenia owing to splenomegaly[] Radiologic examination showed signs of active rickets. Based on clinical and laboratory findings, we focused on the probable diagnosis of cystinosis.[]

  • Thalassemia

    Clinical presentations include growth impairment, rickets-like features, back pain, spinal deformities, any sign of nerve compression, severe osteoporosis, and fragility fractures[] The presence of splenomegaly and the elevation of Hb A(2) and Hb F and the exclusion of a defect of protein of red blood cell (RBC) membranes defined a clinical picture of[] No splenomegaly was present. Both parents carry sickle cell thalassemia. Table 1, Table 2, and Image 1.[]

  • Tyrosinemia Type 1

    Conclusions: According to the case presentation, in approach to rickets, first of all type of rickets should be determined and if hypophosphatemic rickets is proposed, it[] Untreated tyrosinemia type 1 (HT1) is manifested by liver failure associated with renal tubular dysfunction, growth failure, and rickets.[] Infants with focal hepatic lesions and hepatomegaly (n 13) were younger at diagnosis than those with rickets (n 5) (median age: 3.25 vs. 10 months; P 0.05).[]

  • Celiac Disease

    Herein, we report a case of a young female with CD in early phase in concordance with MC and splenomegaly.[] We are presenting this case because it shows a severe case of rickets after malabsorption for many years.[] Malabsorption of calcium and vitamin D may lead to a softening of the bone (osteomalacia or rickets) in children and a loss of bone density (osteoporosis) in adults.[]

  • Mucolipidosis

    […] conditions 'stand alone', 'walk without support' and 'speak single words' were impaired; however, the frequency of 'heart murmur', 'inguinal hernia' and 'hepatomegaly and/or splenomegaly[] The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture.[] Clinical manifestations, such as ‘heart murmur’, ‘inguinal hernia’ and ‘hepatomegaly and/or splenomegaly’, were found in both ML II and III.[]

  • Nephropathic Cystinosis

    One patient presented with classic features of Fanconi's syndrome with failure to thrive and rickets, while the other had polyuria, growth failure and rickets.[] Routine examination revealed normal liver function without hepatomegaly but asymptomatic splenomegaly.[] The authors present a rare case of a 6-y-old girl with Fanconi syndrome secondary to cystinosis, who at presentation had nephrotic range proteinuria along with rickets and[]

  • Aagenaes Syndrome

    Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy.[] […] and symptoms: Main signs and symptoms include abdominal pain , acholic stools, fatigue , hepatomegaly, hyperlipidemia , lymphedema, nausea , vomiting , multiple lipomas , splenomegaly[] […] severe rickets 3 .[]

  • Sterile Multifocal Osteomyelitis with Periostitis and Pustulosis

    625 Chapter 24 Metabolic Bone Disease in the Neonatal Period and its Later Sequelae 655 Chapter 25 Rickets Due to Hereditary Abnormalities of Vitamin D Synthesis or Action[] Abnormality of the digestive system Hepatomegaly Splenomegaly Abnormality of the immune system Osteomyelitis Splenomegaly ... ...[] […] vertebrae ; Hepatomegaly ; Hyperkeratosis ; Interstitial pulmonary abnormality ; Joint swelling ; Osteolysis ; Osteomyelitis ; Periostitis ; Pustule ; Respiratory distress ; Splenomegaly[]

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