Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide

Hyperinsulinism-hyperammonemia syndrome is characterized by recurrent and symptomatic hypoglycemias in childhood, secondary to hyperinsulinism associated with mild and asymptomatic hyperammonemia. This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase gene (10q23.3). These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of known genetic etiology. Moreover, this syndrome is the first genetic disorder due to an increase of function in an enzyme of intermediary metabolism to have been identified. We present the case of a 16-month-old boy with symptomatic recurrent hypoglycemias from the end of the first year of life, caused by a de novo mutation in exon 7 (G979A) of the GDH gene, with excellent outcome after diazoxide treatment.     

Spinal osteomyelitis due to <Emphasis Type="Italic">Aspergillus flavus</Emphasis> in a child: a rare complication after haematopoietic stem cell transplantation

We report the case of a child affected by acute myeloid leukaemia who was treated with allogeneic haematopoietic stem cell transplantation and developed cervicothoracic spinal osteomyelitis due to Aspergillus flavus. The diagnosis was difficult on a clinical basis, but made possible by conventional radiography and MRI.     

Hypoglykämien mit neurologischen Komplikationen bei Kindern mit Typ-1-Diabetes im Vorschulalter

Rationale. Preschool children with type 1 diabetes have a high incidence of severe hypoglycemia with convulsions or loss of consciousness. Prevention of severe hypoglycemias is a preeminent goal in the long-term care of diabetic children. Methods. Twenty-four preschool children with diabetes (age ≤6 yrs) were prospectively studied for 12 months. Incidence of severe hypoglycemic episodes and neurologic symptoms were registered and related to diabetes control and therapy. Severe hypoglycemia was defined as blood glucose below 60 mg/dl and severe neurologic signs (convulsions, loss of consciousness, paresis). Results. Five episodes of severe hypoglycemia occurred in 5 out of 24 preschool children (incidence 0.21/yr). Major signs were generalized convulsions (2 patients), focal convulsion without loss of consciousness (2 patients) and isolated transient hemiparesis in 1 patient. All episodes occurred at night between 11.30 p. m. and 4.20 a. m.. Causes identified in retrospect were an inadequately high basal insulin dose at bedtime in 4 children and an insufficient reduction of insulin after increased physical activity in one child. In the 5 children with severe hypoglycemia BMI was significantly (p = 0.015) higher in the 5 children with severe hypoglycemia compared with those without severe hypoglycemias. Age, duration of diabetes, average HbA1c levels, daily insulin dose, number of insulin injections and number of blood glucose tests were not different. Conclusions. All episodes of severe hypoglycemias in preschool children occurred at night between 11.30 p. m. and 4.20 a. m. The most likely cause was too much basal insulin at bedtime. Families with young diabetic children should be alert to the danger of high insulin doses at bedtime and the necessity of early dose reductions. A high body mass index was associated with the occurrence of severe hypoglycemia, while a low HbA1c value by itself was not.     

Idiopathic pulmonary hemosiderosis: case report

OBJECTIVE: To alert pediatricians about the possibillity of childhood Idiopathic Pulmonary Hemosiderosis, in cases of anemia associated with chronic lung disease. METHODS: This article documents a case of Idiopathic Pulmonary Hemosiderosis in a 6 year-old child, with histopathological documentation, and reviews it against published literature. RESULTS: A 6 year-old child with history of anemia and lung disease characterized by wheezing, recurrent pneumonia and digital clubbing was admitted to the hospital for investigation, where he suffered sudden respiratory failure and hemoptysis.He was submitted to a lung biopsy which showed a histopathological diagnosis compatible with pulmonary hemosiderosis. Therapy with high doses of corticosteroids was initiated with a good early response. After two and a half months of therapy he had a new bleeding episode, culminating in death. CONCLUSIONS: Idiopathic Pulmonary Hemosiderosis should be included as a possible diagnosis of children with anemia and chronic lung disease. This case is a good example.     

Munchausen syndrome by proxy presenting as a developmental disability

Munchausen syndrome by proxy (MSBP) is a form of child abuse in which a parent falsifies illness in a child by fabricating or producing symptoms and presenting the child for medical care while disclaiming knowledge as to the cause of the problem. This report presents the case history of a child diagnosed with MSBP who was portrayed as having multiple developmental disabilities by her mother. Three elements of the case are noteworthy. The emphasis by the mother on multiple developmental disabilities has not been reported. The complexity of this case is unusual and may reflect the complexity of the mother's psychopathology. The interdisciplinary team evaluation was instrumental in making the diagnosis.     

Discordant drug susceptibility for mycobacterium tuberculosis within families

Children with presumed tuberculosis who are in contact with a multidrug-resistant source case should be treated according to the drug susceptibility of the source case's isolate. However, it is important to obtain a microbiologic diagnosis as it is possible for the child to have a different susceptibility profile to the source case. We present 2 such cases.     

Diagnosis and treatment of splenic torsion in a child

A case of splenic torsion in a 4-month-old child is reported. He was extensively investigated but the diagnosis was not made until laparotomy was performed. Retrospectively, the diagnosis of splenic torsion could have been made by ultrasonography and radio-isotope liver/spleen scan. It is possible that the spleen may be able to recover function and consideration should be given to detorsion rather than splenectomy. Offprint requests to: P. M. Davidson     

Paroxysmal tonic upgaze of childhood and childhood absence epilepsy

Paroxismal tonic upgaze of childhood (PTU) is a distinctive neuro-ophtalmological syndrome of unknown aetiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze.Only few cases of PTU with co-existent epilepsy have been reported.We describe a case of female child affected by PTU who developed a childhood absence epilepsy (CAE) after 3 years from the beginning of disturbance.During hospitalization she presented repeated absence seizures; after the diagnosis of CAE, we started therapy with valproic acid (VPA). At the 6-month follow-up from the beginning of VPA therapy the child showed the disappearance of absence seizures with normalization of EEG, while no attenuation of PTU was observed.Our case suggests a possible association between PTU and epilepsy.     

Asperger's syndrome: who is being abused?

Six case histories of children referred and admitted to a psychiatric inpatient unit at a tertiary referral centre because of concerns about poor functioning and possible emotional abuse are presented. On initial assessment the children appeared to be well functioning and the impression was confirmed that their emotional needs were not being met by their parents. After detailed inpatient appraisal the diagnosis of Asperger''s syndrome was made in all six cases, exemplified mainly by a formal concrete way of thinking and an inability to identify and understand human emotions and relationships. The impact of the diagnosis on the parents and their consequent relationships with their child and their willingness to work with professionals is discussed.     

Obstructive hydrocephalus due to a third ventricular neuroepithelial cyst

Cysts occupying the third ventricle are rare lesions and may appear as an unusual cause of obstructive hydrocephalus. Various types of lesions occur in this location, and they generally have an arachnoidal, endodermal, or neuroepithelial origin. The authors present a case of acute hydrocephalus following minor trauma in a child due to cerebrospinal fluid outflow obstruction by a third ventricular cyst. Definitive diagnosis of this cystic lesion was possible only with contrast ventriculography and not routine computed tomography or magnetic resonance imaging. The investigation, treatment, and pathological findings are discussed.     

Prenatal diagnosis and clinicopathologic examination of a case with diastematomyelia

Diastematomyelia is a rare form of spinal dysraphism. Here the spinal cord was split into two with a bony or cartilaginous spur, resulting in formation of two hemicords. The prenatal diagnosis of diastematomyelia is possible with ultrasonography. The unique finding is the appearance of echogenic focus within the spinal canal. This condition may not have any clinical sign during prenatal and early years of life but as the child grows, serious neurologic manifestations may occur, commonly termed the “tethered cord syndrome”. Here, we report a case of diastematomyelia in which a careful antenatal imaging was performed and postnatal pathologic examination confirmed the diagnosis.     

Management of coagulation disorders in children

Children may be born with an inherited coagulation disorder or can develop an acquired coagulopathy as a consequence of another disease or disorder. The correct diagnosis in either case is essential to appropriate management, to reduce the morbidity and mortality associated with inaccurate diagnosis or the incorrect treatment. The treatment of these disorders is often very expensive and there may be risks to the child associated with the administration of products used to treat coagulation disorders; these must be minimized when possible. For these reasons, the child may require referral to a tertiary specialist centre for further investigations and management. In children presenting with bruising or more severe bleeding manifestations, it is not uncommon for the first presumed diagnosis to be non-accidental injury, and it is essential that a true coagulation defect is excluded in these children.     

Posttransplant lymphoproliferative disease: a case report and review for the general pediatrician

This report describes a case of posttransplant lymphoproliferative disease in a 19-year-old male patient with an initial diagnosis of peritonsillar abscess. As the number of children receiving transplants continues to increase, the pediatrician must become familiar with the possible presentations of posttransplant lymphoproliferative disease and at least consider it as a diagnosis in any ill child under long-term treatment with immunosuppressive agents. The epidemiology, pathogenesis, clinical presentations, evaluation, prognosis, and treatment of posttransplant lymphoproliferative disease are reviewed for the primary care pediatrician.     

Obstructive jaundice in children may be due to a malignant tumour of the common bile duct

We report a case of rhabdomyosarcoma of the common bile duct in an 8-year-old child. The diagnosis was suspected from sonography, computed tomography of the abdomen, and upper gastrointestinal endoscopy during attempted endoscopic retrograde cholangiopancreatography. Excision was not possible due to extensive intrahepatic and local infiltration, and therefore chemotherapy was given after taking a biopsy. Rhabdomyosarcoma of the biliary tree is one of the rarest causes of obstructive jaundice in pediatrics, but should be considered in the differential diagnosis of a jaundiced patient to ensure immediate investigation and treatment whether or not the cause is rare.     

Right-Sided Endocarditis Due to Salmonella typhi

A case of right-sided endocarditis due to Salmonella typhi is described involving a native tricuspid valve in a child who was human immunodeficiency virus negative with no evidence of intravenous drug addiction. The patient had classic features of typhoid and tricuspid regurgitation without clinical evidence of bacterial endocarditis. Transthoracic echocardiography confirmed the tricuspid regurgitation. However, transesophageal echocardiography was necessary to demonstrate the vegetations affecting the tricuspid valve leaflets that made possible the diagnosis of endocarditis. The infection was cured with intravenous ceftriaxone and oral amoxicillin.     

Neuroimaging of Rasmussen's encephalitis

A case of Rasmussen's encephalitis is reviewed. Focal seizures and hemiparesis in a 5-year-old child progressed over a period of 2 1/2 years. Neuroimaging findings showed progressive atrophy of the right temporal lobe. The diagnosis of this syndrome is possible using a combination of the clinical symptoms and neuroimaging findings.     

Rapidly enlarging solitary nonparasitic cyst of the liver in a child presenting as acute abdomen

Symptomatic solitary nonparasitic cysts of the liver (SNCL) are rarely encountered in children, especially rapidly enlarging cysts presenting as acute abdomen. Therefore, it is difficult to establish the pre-operative diagnosis and to determine the treatment protocol of SNCL. While imaging techniques such as ultrasonography and computed tomography are modalities for diagnosis of SNCL, making a pre-operative diagnosis in the case of very large cysts remains difficult. We present a child with SNCL who initially presented with a rapidly enlarging cyst presenting as acute abdomen, and also provide a review of the literature. Moreover, we evaluate the surgical procedures and conclude that total excision of the cysts when possible is a suitable treatment procedure in children. This study was not supported by any grant.     

Chronic foreign body aspiration diagnosed by lung scan.

The case of a two-year-old child with foreign body aspiration is presented. It was complicated by a delay in diagnosis and treatment. Lung scan was helpful in eventually establishing the diagnosis. Key points in the management of patients with foreign body aspiration are reviewed and pathophysiologic mechanisms are discussed.