Cardiac echinococcosis associated with cerebrovascular occlusive disease and subcutaneous bullous eruptions and ulcers.

Cardiac involvement is an uncommon complication of echinococcosis. It is usually asymptomatic and may only be diagnosed incidentally. A 7-year-old boy was admitted with acute stroke and bullous and ulcerated skin lesions. He was diagnosed with cardiac echinococcosis complicated by systemic emboli to the central nervous system and superficial cutaneous arteries. In endemic areas, echinococcosis should be considered in the differential diagnosis of cardiac disease and unexplained cerebral embolism.

Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.

UNLABELLED: We described a Turkish girl with Chanarin-Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin-Dorfman syndrome such as ichthyosis, Jordan's anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin-Dorfman syndrome. Cirrhosis has been reported in patients with long-duration disease. CONCLUSION: Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome.

Crimean-Congo haemorrhagic fever among children in north-eastern Turkey.

AIM: To analyse the epidemiological and clinical features of children with Crimean-Congo haemorrhagic fever (CCHF) in north-eastern Turkey. METHODS: A retrospective study of demographic features and physical and laboratory findings in 21 children with CCHF is described. Clinical course, treatment modalities and outcome were analysed. RESULTS: Most patients were admitted in June and July 2008; most were from the Gumushane and Kelkit valleys and half of them lived in rural areas. Mean (SD) age was 10.3 (3.9) years and the disease was more common in males (71.4%). Approximately 70% had a history of tick bite. The main symptoms were fever (17, 80.9%), nausea (11, 52.3%), malaise (10, 47.6%) and headache (7, 33.3%). At initial examination, approximately 70% of patients had leukopenia and 65% had thrombocytopenia. Anaemia developed during follow-up in six patients. Liver involvement was seen in 12 patients and one patient had acute tubular necrosis. Six patients had haemophagocytosis. Patients were hospitalised for a median 8 days (range 3-22) and nine patients had bleeding from various sites approximately 3-5 days after hospitalisation. Subcutaneous haematoma (6), especially epistaxis and at venepuncture sites (6) were the most common sites of bleeding. Pulmonary haemorrhage developed in two patients and they required ventilatory support. Overall mortality related to CCHF was 4.7% (one patient). CONCLUSION: Early diagnosis of CCHF and early referral to specialised centres are important for outcome. Exceptional epidemics may be seen in future owing to ecological and environmental changes.

Autosomal recessive multiple pterygium syndrome: a new variant?

Multiple pterygium syndromes include at least 15 different entities characterized by multiple pterygia or webs of the skin and multiple congenital anomalies. We describe a female infant who presented with a distinct constellation of multiple anomalies consisting of pterygia of the inguinal, intercrural and popliteal areas, flexion contractures and arthrogryposis of some joints, craniofacial anomalies including ectropion, medial canthal web, blepharophimosis, hypoplasia of nose, oral and nasopharyngeal cavities, vocal cords and tongue, micrognathia, orolabial synechiae secondary to pterygia, low set ears, alopecia, sad and expressionless face, short neck, asymmetric nipples, anal stenosis, rectal polyp, hypoplastic labia majora, complete syndactyly of all fingers and toes, pes equinovarus, bandlike web between feet, and absence of the nails and phalangeal-palmar creases. Radiological examination showed synostosis, absence or hypoplasia of metacarpal, metatarsal and phalangeal bones on feet and hands, and hypoplasia of pelvic bones and scapulae. This pattern of anomalies does not fit entirely any of the known multiple pterygium syndromes. Autosomal recessive inheritance is most likely due to the presence of three similarly affected siblings and normal parents.

Campomelic dysplasia associated with mandibular clefting.

Campomelic dysplasia (CD), is a lethal dwarfism of the newborn, characterised by rhizomelic dwarfism, bowed femora and tibiae, associated with other skeletal and extraskeletal defects. It is suggested that there are long-limbed and short-limbed varieties. Various clinical and radiological anomalies have been described in both types of CD. Here, we describe for the first time a cleft in the mandibula in a patient with campomelic dysplasia.

Aicardi syndrome: a variant example with new clinical findings.

Aicardi syndrome, which shows X-linked dominant inheritance, is characterized by corpus callosum agenesis, infantile spasms, chorioretinitis, chorioretinal lacunae, psychomotor retardation, microphthalmy, cerebral atrophy and vertebral abnormalities. A 3/12 year-old girl with Aicardi syndrome who has dilated right lateral ventricle and leucomalacy in the right frontal lobe on magnetic resonance imaging (MRI) is presented. As far as we know, this combination of symptoms was not described previously in the literature.

Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.

We report a 12-year-old girl with an unusual phenotype of Gaucher disease type 3. Liver glucocerebrosidase activity was 20% of the normal. In addition to common manifestations such as hepatomegaly, she showed primary communicating hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, and clinodactyly of hands and feet. We suspect cardiomyopathy to be due to myocardiac infiltration with Gaucher cells, and corneal opacities to result from an accumulation of lipid-like inclusions into the posterior stromal keratinocytes. We were only able to find one previously published sibship disclosing similar features, which could allow the delineation of a new clinical variant of Gaucher disease.

Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations.

Multiple vertebral segmentation defects i.e. multiple malformations of vertebrae and ribs are characterized by short neck, scoliosis, short trunk and deformity of the ribcage. There are three major subtypes; Jarcho-Levin syndrome, spondylothoracic dysostosis and spondylocostal dysostosis, with different inheritance patterns, survival rates and associated malformations. We describe three cases of multiple vertebral segmentation defects, two with familial spondylothoracic dysostosis and one with sporadic spondylothoracic dysostosis, and anomalies i.e. super-numerary breast, clubfeet deformity, myelomeningocele, intradural lipoma, and Arnold-Chiari malformation.

Nonsurgical therapy of hepatic injury in a hemophilic child.

A 14-year-old boy who had hemophilia A sustained liver injury with intraabdominal hemorrhage. The condition was diagnosed by ultrasound (US) and treated conservatively.

The effect of ATP-MgCl2 on lipid peroxidation in ischemic and reperfused rabbit kidney.

Oxygen metabolites formed during reperfusion of ischemic kidneys prevent recovery of renal function after short periods of renal ischemia. The administration of ATP-MgCl2 is beneficial to the survival of animals after hemorrhagic shock, severe burns, septicemia-peritonitis, post-ischemic hepatic failure, bowel ischemia, and endotoxic shock. In this study, the effect of ATP-MgCl2 on lipid peroxidation and its curative effect were evaluated by measuring the decomposition products of lipid peroxidation, detected as thiobarbituric-acid reactive substances in homogenized kidney tissues in ischemic and reperfused rabbit kidneys. Ischemia was performed by clamping the right renal artery for 60 minutes followed by 30 minutes of reperfusion. Thirty-six rabbits were classified into 6 groups containing 6 rabbits in each. In the first group, no renal ischemia-reperfusion (I-R) was designed (Sham group), the right kidney was removed 90 minutes later. In the second group, I-R was established but nothing given. Saline 0.25 cc/kg was given into the right renal artery in group 3 two minutes before ischemia, and in group 4 two minutes before reperfusion. ATP-MgCl2 17.5 mumol/kg (0.25 cc/kg) was given two minutes before ischemia in group 5, and before reperfusion in group 6. The right kidneys of the rabbits were removed and thiobarbituric-acid reactive substances in the homogenates were measured. In addition, histopathological evaluation was performed. High lipid peroxidation products were recorded in groups 2-5, whereas in group 6, these levels were low similar to those obtained in Sham group (76.72 +/- 1.01 nmol/g tissue). On histopathological evaluation, a considerable cell damage resulting from I-R trauma especially in proximal tubules was observed. In groups which were under saline effect, no histopathological damage was found. Histophatological preservation was better in group 6 rather than in group 5. The results of this study indicate that ATP-MgCl2 is remarkably effective for preventing the lipid peroxidation if given before reperfusion but not before ischemia in experimental I-R injury in rabbit kidneys.

Asplenia in a patient with Fanconi's anemia-like congenital aplastic anemia.

Fanconi's anemia (FA) is an autosomal recessive disease manifested by pancytopenia resulting from bone marrow failure, variable physical anomalies and cancer susceptibility. A seven-year-old girl with Fanconi's anemia-like congenital aplastic anemia and concurrent asplenia without the congenital heart defects or the abdominal heterotaxia is reported. Asplenia was indicated using denatured red cells labelled with 51Cr, abdominal ultrasonography and computerized tomography. Immunological studies showed immunoglobulins (IgG, IgA, IgM), C3 and C4 levels within normal limits and the percentage of CD3, and C4 cells and the CD4/CD8 ratio decreased. The patient had not been exposed to recurrent pneumococcal infections. We think that isolated asplenia may occur in patients with Fanconi's anemia-like congenital aplastic anemia without the congenital heart diseases or abdominal heterotaxia.

Successful treatment of reactive hemophagocytic syndrome with cyclosporin A and intravenous immunoglobulin.

Infection-associated hemophagocytic syndrome (IAHS) is a form of the reactive hemophagocytic syndrome. IAHS is associated with viral, bacterial, fungal, mycobacterial, rickettsial and protozoal infections and with various malignant neoplasms. A more accurate designation for this acquired form of the syndrome is reactive hemophagocytic syndrome (HS). Reactive HS is characterized by malaise, fever, hepatosplenomegaly, lymphadenopathy, cytopenia, hypertriglyceridemia, hypofibrinogenemia and hemophagocytosis. Cyclosporin A, VP-16, high-dose steroids, and intravenous immunoglobulin (IVIG) have been used in the treatment of IAHS. Here, a 10-year-old girl with reactive HS due to possible viral infection was treated successfully with cyclosporin A and IVIG. Fever disappeared on the third day, complete blood count reached normal levels on the sixth day and hepatosplenomegaly disappeared on the ninth day after treatment. We believe cyclosporin A and IVIG may be used in the treatment of reactive HS, at least in selected patients. Further studies are required to confirm its role as first-line therapy for children with IAHS.

Intracerebral hemorrhage: a rare late manifestation of vitamin-K deficiency in a breastfed infant. A case report.

Late hemorrhagic disease of the newborn (HDN) is a rare complication of vitamin-K deficiency and is especially associated with intracranial hemorrhage. It may also occur in infants who received vitamin-K prophylaxis at birth. Here, we reported a case of late HDN with frontal lobe hemorrhage due to vitamin-K deficiency. This form of intracranial hemorrhage of late HDN has been reported in the literature very rarely. We conclude that the efficiency of single-dose vitamin-K prophylaxis should be revaluated.

The role of high-dose methylprednisolone therapy in paroxysmal nocturnal hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder characterized by intermittent hemolytic anemia. High-dose methylprednisolone (HDMP) was administered in two patients, eight- and 16-year-old females, with PNH. This drug produced a dramatic improvement in the hemoglobin level, leukocyte and platelet counts. No side effect was observed in either patient during the treatment period. The patients were followed up on an outpatient basis for six and 16 months. In conclusion, HDMP therapy for PNH appears to be more effective and safe than previously reported therapies.

Serum granulocyte-macrophage colony-stimulating factor and interleukin-1 levels in patients with repeated and non-repeated pulmonary infections.

Granulocyte-macrophage colony-stimulating factor (GM-CSF) has a stimulating effect on erythroid, megakaryocytic and granulocyte-macrophage progenitors. Activated T lymphocytes, monocytes, fibroblasts and endothelial cells release GM-CSF after stimulation by endotoxin and cytokines such as interleukin-1 (IL-1) and tumor necrosis factor. IL-1 is also released in response to bacterial infections and inflammation by phagocytic mononuclear cells. GM-CSF and IL-1 levels were examined in 10 patients with recurrent pulmonary infection (repeaters) and in 10 patients with acute pulmonary infection (non-repeaters) in the acute and recovery periods of infection. The mean serum GM-CSF and IL-1 levels of non-repeaters were significantly higher than those of repeaters in the acute period of infection (p < 0.002), but the same parameters of both groups were not different in the recovery period (p > 0.05). In addition, both the serum GM-CSF and IL-1 levels of repeaters and non-repeaters in the acute period of infection were higher than those in the recovery period (p < 0.05). There was a positive correlation between serum IL-1 and GM-CSF levels in non-repeaters (r = 0.746, p = 0.013), but no significant correlation between the same parameters in repeaters (r = 0.395, p = 0.259). In this study, we could not explain why the serum GM-CSF and IL-1 levels in repeaters did not increase as they did in non-repeaters; moreover, there was no significant correlation between serum IL-1 and GM-CSF levels in repeaters during the acute period of infection. These findings may be due to microenvironmental factors in bone marrow and/or other factors.

Occult pneumococcal septicemia and pneumococcal pneumonia complicating pneumatoceles in a previously healthy child.

Fulminating pneumococcal septicemia without an obvious focus of infection is very rare in previously immunocompetent children older than two years. Furthermore, pneumatocele formation in pneumococcal pneumonia is uncommon. The majority of pneumatoceles are self-limited and disappear spontaneously. Here, we report a six-year-old healthy child with occult pneumococcal septicemia and pneumococcal pneumonia secondary to septicemia. Giant pneumatoceles causing respiratory insufficiency formed secondary to the pneumococcal pneumonia and were aspirated via needle under fluoroscopic guidance.

Asymmetric crying facies: an index of other malformations.

Congenital hypoplasia or absence of the depressor anguli oris muscle is a minor congenital anomaly causing asymmetrical crying facies (ACF). The interesting aspect of this abnormality lies in the frequently associated abnormalities. Cardiac, urogenital, musculoskeletal, respiratory and cervicofacial defects have been described in cases with ACF. Therefore it is suggested that ACF can be used as an index of other congenital malformations. We report three cases with ACF who had varied congenital anormalites.

Various clinical aspects of DIDMOAD (Wolfram) syndrome.

The association of juvenile diabetes mellitus (DM), diabetes insipidus (DI), optic atrophy (OA) and sensorineural deafness (D) is known as DIDMOAD or Wolfram syndrome. Aside from these four cardinal features, a wide variety of abnormalities of the nervous system, urinary tract and endocrine glands have been described in this syndrome. In this report, the clinical features of six patients with DIDMOAD syndrome are presented. All six patients had DM. Five of the six patients had DI, five OA and five displayed abnormal audiogram findings. In addition, two had goiter, two delayed puberty, one seizure and one mental retardation with depression attacks. Urinary tract dilatation was recorded in five patients. Four patients developed typical complications of DM. One of them had overt nephropathy and arthropathy despite the short duration of DM. In addition, this patient had diabetic retinopathy, which is considered to be rare in this syndrome.

Langerhans cell histiocytosis associated with recurrent pneumothorax: a case report.

Pulmonary involvement of Langerhans cell histiocytosis (LCH) is an uncommon but important cause of pulmonary fibrosis and honeycombing in young adults. Rarely, pulmonary LCH may be complicated by spontaneous pneumothorax. It may be isolated or associated with multiple organ involvement. We describe here a case of LCH with diabetes insipidus, skin lesions and pulmonary involvement in a 15-year-old boy. The case was complicated by four episodes of spontaneous pneumothorax with typical radiologic findings of pulmonary LCH. His presentation, radiologic findings, treatment and clinical course during three-years of follow-up are discussed.

Absorption of iron from grape-molasses and ferrous sulfate: a comparative study in normal subjects and subjects with iron deficiency anemia.

We compared the absorption of iron from grape molasses (GM) and ferrous sulfate (FS) using the post-absorptive serum iron increase method (non-radioactive). The study involved 56 subjects, aged 6-36 months. Group I consisted of 30 subjects with iron deficiency anemia (IDA) and group II, 26 non-anemic subjects. Each group was subdivided randomly into two equal subgroups to be given either GM or FS. The absorption of the iron from GM was monitored in 15 infants with IDA and in 13 non-anemic infants, and the absorption of iron from FS was tested in the rest of the subjects in each group. In those infants in each group given GM or FS, there was no significant difference in before-test values for serum iron (SI) and total iron binding capacity (TIBC) (p > 0.05). In the group with IDA, the mean after-test SI value in FS-given infants was higher and the mean TIBC value lower than those of GM-given infants (p < 0.05). However, in the non-anemic group, there was no significant difference in the mean after-test SI and TIBC values in either GM- or FS-given infants (p > 0.05). The mean increase of serum iron in GM-given infants with IDA was 27.0 +/- 13.4 micrograms/ dl and in FS-given infants, 60.6 +/- 17.0 micrograms/dl (p < 0.05). In the non-anemic group, the mean increase of serum iron of GM-given infants was 23.0 +/- 4.3 micrograms/dl, and that of FS-given infants, 23.8 +/- 10.0 micrograms/dl (p > 0.05). We determined that in non-anemic subjects, the absorption of iron from GM was comparable to that from FS. Furthermore, we believe that grape molasses is an effective iron source in preventing iron deficiency anemia in infancy.