1/124. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.- - - - - - - - - - ranking = 1keywords = rickets (Clic here for more details about this article) |
2/124. A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene.We describe a familial syndrome in two brothers who were investigated after the casual discovery of tubular proteinuria in their 1st month of life. During a follow-up of 20 and 11 years, respectively, the two children grew well and were asymptomatic, but developed the same biochemical abnormalities, i.e., tubular proteinuria and hyperphosphaturia, progressive decrease in serum phosphorus below the normal values for age, and an increase in serum 1,25-dihydroxyvitamin D levels over normal values. Moreover, hyperabsorptive hypercalciuria and systemic osteopenia developed and progressively worsened. In both children, at a different age, medullary nephrocalcinosis appeared. The oldest boy suffered a progressive decrease in urinary concentration ability and in glomerular filtration rate. Oral phosphate supplementation led to reversal of all biochemical abnormalities, with the exception of decreased phosphate tubular reabsorption and tubular proteinuria. With long-term phosphate supplementation, a normal bone mass was reached, while progression of nephrocalcinosis was arrested and impairment of renal function was slowed down. In a family study (siblings and parents), the only detectable abnormality was microglobinuria in the mother, thus suggesting a X-linked inheritance of this disorder. In the two probands a mutation within the renal chloride channel gene (CLCN5) was discovered.- - - - - - - - - - ranking = 0.0093693284472267keywords = vitamin (Clic here for more details about this article) |
3/124. oral manifestations of Schimmelpenning syndrome: case report and review of literature.Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.- - - - - - - - - - ranking = 0.5277869620827keywords = hypophosphatemic, rickets (Clic here for more details about this article) |
4/124. Recurrent urinary tract infections and genitourinary tract abnormalities in the Imerslund-Grasbeck syndrome.Two Imerslund-Grasbeck patients who presented with recurrent urinary tract infections and genitourinary abnormalities are described. The patients were evaluated with abdominal ultrasounds, voiding cystourethrograms, and Schilling tests. Each patient had large postvoid residual urine secondary to a motor-neurogenic bladder. One had a duplication of the distal urethra manifesting as two meatal openings. There was lack of urinary excretion of radioactive vitamin B12 on Schilling tests in both patients. patients with Imerslund-Grasbeck syndrome may be predisposed to urinary tract infections because of incomplete bladder emptying. Complete physical and radiological examinations of the genitourinary tract should be performed.- - - - - - - - - - ranking = 0.0093693284472267keywords = vitamin (Clic here for more details about this article) |
5/124. Gingival bleeding, epistaxis and haematoma three days after gastroenteritis: the haemorrhagic lupus anticoagulant syndrome.A 3 year and 9 month-old girl presented with gingival bleeding, epistaxis, and multiple haematomas 3 days after an acute episode of gastroenteritis. prothrombin time and activated partial thromboplastin time were prolonged with reduced clotting activity of factor II (< 10%), VIII (<1%), IX (3%), XII (10%) and evidence of a high titre inhibitor. Prothrombin (factor II) level was below the detection limit, both in a functional and immunological assay. It did not increase after administration of vitamin k or fresh frozen plasma. Further studies revealed presence of a strong lupus anticoagulant and a specific IgG antibody against prothrombin. factor viii antigen levels also were reduced (31%), but to a lesser extent than functionally determined factor viii (<1%). blood coagulation normalised following clinical recovery 6 weeks after admission. The pathophysiology of this acquired inhibitor phenomenon (accelerated clearance of complexes of clotting factors and phospholipids) is discussed. CONCLUSION: The haemorrhagic lupus anticoagulant syndrome (acquired hypoprothrombinaemia lupus anticoagulant syndrome) is a rare presentation of acquired bleeding diathesis in childhood. Since most cases in post-infectious children are asymptomatic, it might be underdiagnosed. In children with newly appearing bleeding symptoms or unclear prolonged prothrombin time or activated partial thromboplastin time, one has to consider this syndrome which could lead to relevant bleeding.- - - - - - - - - - ranking = 0.0093693284472267keywords = vitamin (Clic here for more details about this article) |
6/124. Blue rubber bleb nevus syndrome: a case report with long-term follow-up.Blue rubber bleb nevus syndrome is an uncommon condition manifested by gastrointestinal and skin hemangiomas that lead to gastrointestinal bleeding and anemia. The purpose of this report is to present a case with long-term follow-up. The patient is a 37-year-old female with a life-long history of blue rubber bleb nevus syndrome. She underwent multiple resectional operations that combined to give her a partial gastrectomy, partial small bowel resection, total abdominal colectomy, and end ileostomy. She continues to need endoscopy with sclerotherapy. In addition, she has iron-deficiency anemia, nephrolithiasis, major depression, and malnutrition despite vitamin and caloric supplements. There are no other reports showing these complications of blue rubber bleb nevus syndrome or with this length of follow-up. Therapy for blue rubber bleb nevus syndrome should be conservative if possible, because operative therapy may lead to significant long-term complications.- - - - - - - - - - ranking = 0.0093693284472267keywords = vitamin (Clic here for more details about this article) |
7/124. Severe osteopenia in a young boy with Kostmann's congenital neutropenia treated with granulocyte colony-stimulating factor: suggested therapeutic approach.Kostmann's syndrome is a congenital disorder that causes an impairment of myeloid differentiation in the bone marrow characterized by severe neutropenia, which can be treated with recombinant human granulocyte colony-stimulating factor (G-CSF). We present the case of a 13-year-old boy with Kostmann's syndrome who was treated with recombinant human G-CSF from age 3.5 years. His growth and development was normal, although complicated by intermittent infections. Bone mineral density (BMD) measurement revealed severe osteopenia at the spine and hips (lumbar spine BMD 0.486 g/cm(2); Z score -3.6), and he was referred to the Endocrine Service. Relevant laboratory evaluation showed a pretreatment ionized calcium level at the upper limit of normal (1.28 mmol/L; range: 1.13-1.32 mmol/L), suppressed intact parathyroid hormone (iPTH) level (12 pg/mL; range: 10-65 pg/mL), and a low 1,25-dihydroxy vitamin d level (21 pg/mL; range: 24-65 pg/mL). He had evidence of increased bone turnover evidenced by elevated urinary deoxypyridinoline (DPD) cross-links (46.9 nmol/mmol creatinine; range: 2-34 nmol/mmol creatinine) and a simultaneous increase in markers of bone formation with elevated osteocalcin level (200 ng/mL; normal: 20-80 ng/mL) and alkaline phosphatase level (236 IU/mL; normal: 38-126 IU/mL). Because of clinical concern for his skeletal health, bisphosphonate therapy with intravenous pamidronate was initiated. One month after treatment, the iPTH and DPD cross-links were in the normal range (54 pg/mL and 17.7 nmol/mmol creatinine, respectively) and the 1,25-dihydroxy vitamin d level was elevated (111 pg/mL). Four months after treatment, there was a striking increase in BMD at the lumbar spine ( 30.86%), femoral necks (left, 20.02%; right, 17.98%), and total hips (left, 18.40%; right, 15.94%). Seven months after bisphosphonate therapy, his biochemical parameters showed a return toward pretreatment levels with increasing urinary DPD cross-links (28.7 nmol/mmol creatinine) and decreasing iPTH (26 pg/mL). However, the BMD continued to increase (8 months posttreatment), but the magnitude of the increment was attenuated (lumbar-spine, 4.8%; left total hip, 1.2% and right total hip 2.4%), relative to BMD at 4 months. Eight months after the initial treatment, his iPTH was suppressed at 14 pg/mL and he again received pamidronate (at a lower dose); 3 months later, he had an additional increase in BMD (lumbar spine 7.4%, left total hip 3.9%, right total hip 2.7%), relative to the previous study. We hypothesize that prolonged administration of G-CSF as treatment for Kostmann's syndrome is associated with increased bone resorption, mediated by osteoclast activation and leading to bone loss. In children, the resulting osteopenia can be successfully managed with antisreorptive bisphosphonate therapy with significant improvement in bone density. Measurements of biochemical parameters of bone turnover can be used to monitor the magnitude and duration of the therapeutic response and the need for BMD reassessment and, perhaps, retreatment.- - - - - - - - - - ranking = 0.018738656894453keywords = vitamin (Clic here for more details about this article) |
8/124. Re-feeding syndrome.The effect of a therapeutically administered high calorie diet in a severely malnourished patient is discussed in this case report. In patients with advanced head and neck cancer prolonged periods of malnutrition prior to admission are frequently encountered. This case report highlights the need to constantly monitor the electrolyte and vitamin levels during the early stages of instituting enteral or parenteral nutrition. By vigilant monitoring and a high index of suspicion re-feeding syndrome or severe hypophosphataemia and its associated complications can be avoided.- - - - - - - - - - ranking = 0.0093693284472267keywords = vitamin (Clic here for more details about this article) |
9/124. Neurologic problems associated with chronic nitrous oxide abuse in a non-healthcare worker.Chronic exposure to nitrous oxide (N2O) is known to be associated with hematologic and neurologic abnormalities. When this syndrome occurs, it is generally seen in health care workers, especially dentists and anesthesiologists, who have access to nitrous oxide. Here, however, we report a case of a 55-year-old non-healthcare worker who presented with multiple neurological abnormalities. His serum vitamin B12 level was low but his Shilling test was normal. His neurologic symptoms improved after cessation of inhaling nitrous oxide and starting vitamin B12 therapy. physicians should consider nitrous oxide abuse in non-healthcare workers presenting with neurologic symptom of unclear cause.- - - - - - - - - - ranking = 0.018738656894453keywords = vitamin (Clic here for more details about this article) |
10/124. Normal vitamin B12 turnover in subacute combined degeneration of the spinal cord.Vitamin B12 turnover studies were carried out in 2 patients with pernicious anemia and subacute combined degeneration of the spinal cord. The retention of a tracer dose (0.5 mug) of intravenously administered 58Co-labeled vitamin B12 in these 2 patients was measured by whole-body monitoring over periods of 94 and 134 days. Vitamin B12 turnover (per cent per day) was calculated and the results compared with normal subjects and with pernicious anemia patients having no neurologic dysfunction. The loss of radioactive-B12 from the body was described by a single exponential model, confirming that the loss of vitamin B12 takes place as though from a single pool. There was no difference in vitamin B12 turnover between the patients with subacute combined degeneration of the spinal cord and normal subjects or other pernicious anemia patients without neurologic involvement. These findings contradict the suggestion that the development of neuropathy in vitamin B12 deficiency might be related to an increased requirement for vitamin B12.- - - - - - - - - - ranking = 0.08432395602504keywords = vitamin (Clic here for more details about this article) |
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