Alpha thalassaemia mental retardation (ATR-X): an atypical family.

A novel form of severe, X linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detected in the peripheral red blood cells after repeated observations.     

Focal fatty infiltration of the liver in a healthy child

Fatty infiltration of the liver may occur in healthy children. The ultrasonographic, CT, and MRI findings are identical to those already described in the adult population.Diffuse or focal fatty infiltration of the liver is seen in adults with ethanol abuse, diabetes, obesity, high-dose steroids, and hyperlipidemia and has also been described in otherwise healthy adults [1]. The radiographic signs of diffuse fatty liver are well known [2], but focal fatty infiltration of the liver (FFIL) has been confused with abnormalities such as hepatic metastases in the adult population [3]. In the pediatric population, FFIL has not been previously described in normal children.     

Ultrasound of the discharging umbilicus

Ultrasound of a patent urachus has been well described. However, ultrasound of the other congenital abnormalities affecting the umbilicus has not. Two cases are described, one of a vitelline (omphalomesenteric) duct and one of an umbilical granuloma, in which the ultrasound findings guided the child's management, preventing a minilaparotomy.     

Development anomalies of the occiput

Four patients with classical features of bathrocephalism are described. Three further patients with developmental anomalies of the occiput are described and these are contrasted with those having classical bathrocephalism. The distinction between the two groups is emphasised. Reference is made to cases described in the pediatric literature which appears at times to depart from the traditional norms and classical notation. An attempt has been made to interpret the developmental history.     

EARLY ONSET RAPID CYCLING BIPOLAR AFFECTIVE DISORDER

Four cases of rapid cycling bipolar affective disorder are described; the diagnosis being made by DSM(III) criteria. All are children, aged between 11 and 12 at the onset of the illness and all are of low intelligence. The follow-up has ranged from three to five years. The clinical symptoms and their response to treatment are described and the implications of this unusual presentation are discussed.     

Cervical Spine Dysraphism with Teratoma Exhibiting Pulmonary Differentiation: Case Report and Review of the Literature

Spinal dysraphism and teratomas are well-recognized spinal cord lesions, but both entities are rare in the cervical spinal cord. Rarely, teratomas have been described within dysraphic lesions in the thoracic and lumbosacral regions. To date, teratomas contained within cervical spine dysraphic lesions have not been described. Although mature cystic teratomas are renowned for the array of organoid tissue differentiation they display, mature lung differentiation is a rarity. While pulmonary differentiation has been described in six female genital tract teratomas, it has not been reported in spinal teratomas. The clinicopathologic features of a complex cervical lesion, comprising a combination of cervical spine dysraphism with a mature cystic teratoma that exhibited pulmonary differentiation, is presented, and the literature on teratomas exhibiting pulmonary differentiation is reviewed. Received February 21, 1997; accepted December 8, 1997.     

Congenital sclerocornea in Nigerian children

Four cases of congenital sclerocornea in Nigerian children are described. Two of these children are from the same family suggesting a genetical determination. A developmental anomaly with various manifestation and associated with other ocular abnormalities would appear to be the etiology. One of the cases also had extrophia vesicae, an association that has not been previously described.     

Ischio-pubic-patellar hypoplasia: is it a new syndrome?

Aplasia/hypoplasia of the patella has been described as an isolated finding or, more commonly, as a part of congenital syndromes. We describe here bilateral absence of the patella in an 11-year-old girl with absence of the ischial and inferior pubic rami bilaterally. Other associated skeletal and soft-tissue deformities are also reported. To our knowledge, the constellation of these findings has not been described previously and represents a unique syndrome. Received/accepted: 8 December 1995     

Malaria in children

Fifty-four cases of malaria in children seen during an 11-year period are described. There have been more cases seen in recent years, and the proportion of Plasmodium falciparum malaria has increased. Compliance with chemoprophylaxis is poor, but compliance does not guarantee protection. Malaria is the primary diagnostic consideration in any child recently returning from an endemic area who presents with fever. Two cases are described.     

Spontaneous drainage of neonatal cephalohematoma: a delayed complication of scalp abscess

Neonatal cephalohematomas are known complications of traumatic deliveries, and the majority of cases resolve without intervention. Scalp abscesses are rare and often described as benign complications of fetal scalp monitoring. Spontaneous drainage of a neonatal cephalohematoma, with or without associated scalp abscess, has not yet been described. We present a case of a neonate with recurrent Escherichia coli bacteremia and spontaneous drainage of a large cephalohematoma through an overlying scalp abscess.     

Thickened cortical bones in congenital neutropenia

Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise, are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndromes with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described.     

Lipoma in the thyroid?

We report a child with a nodular goiter and a lipoma in the thyroid gland. This association has not been previously described in children. Thyrolipoma and lipomatosis of the thyroid are rare tumors of similar histology and unclear etiology. The lesions and the histology described in this child might represent the beginning of this disease.     

Enterolithiasis with imperforate anus

Enterolithiasis has been previously described as a plain film finding of rectovesical or rectourethral fistula in patients with anorectal malformation. Two cases of enterolithiasis with anorectal malformation are described in which the intraluminal nature of the calcifications was identified using ultrasound. The use of ultrasound for this purpose has not been previously reported to our knowledge. This simple, noninvasive technique permits antenatal differentiation between enterolithiasis and meconium peritonitis in some patients and can suggest the prenatal diagnosis of rectourinary communication when enterolithiasis is present. In addition, one of our cases occurred in a female. The entity of enterolithiasis with imperforate anus in a female has not been previously reported.     

Angiokeratoma corporis diffusum--Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy

This paper gives a brief historical overview of Fabry disease. First described in 1898 and called angiokeratoma corporis diffusum, a succession of observations and pioneering clinical research over the past 100 years has led to our present understanding of the disease. The major milestones during this time are described, as is the work that resulted in the successful introduction of enzyme replacement therapy.     

Angiokeratoma corporis diffusum – Fabry disease: historical review from the original description to the introduction of enzyme replacement therapy

This paper gives a brief historical overview of Fabry disease. First described in 1898 and called angiokeratoma corporis diffusum, a succession of observations and pioneering clinical research over the past 100 years has led to our present understanding of the disease. The major milestones during this time are described, as is the work that resulted in the successful introduction of enzyme replacement therapy.     

Molecular architecture of the fibers of sickle (SS) hemoglobin

Direct observations by electron microscopy and image reconstruction on the fibers of hemoglobin S responsible for sickling have revealed a complex, solid-core structure with 14 filaments that appear to be arranged in seven pairs of double filaments. Several lines of evidence indicate a close correspondence between these helical double filaments and the linear double filaments that occur in crystals of hemoglobin S. An analysis of the movements that would be required to interconvert fibers and crystals (and the consequences for the intermolecular contacts) has recently been completed. The movements have been described in terms of three rotation angles, the largest of which involves a rotation of 12 degrees between adjacent molecules in opposite strands of the double filaments. The detailed topology of the molecular contacts within the fibers has been described in terms of a series of surface maps based on polar coordinates. The coincidence of various intermolecular contact sites for the fibers with particular amino acid residues has permitted roles to be proposed for almost all sites where secondary mutations are known to perturb fiber formation. Current efforts to test the premises and conclusions of this analysis are described. Overall, these studies should pinpoint sites on the surface of hemoglobin S that are most suitable as targets for antisickling agents.     

Right aortic arch with left descending aorta (circumflex aorta) Roentgenographic diagnosis

Right aortic arch with retroesophageal segment is a rare anomaly with distinctive roentgenographic features. We present 2 patients, who on the barium oesophogram had an additional finding which has not previously been described. The typical features include an indentation on the right upper barium filled oesophagus (in the antero-posterior view), an oblique indentation descending from right to left (caused by the retroesophageal segment) and the left descending aorta. The oblique indentation has not previously been described. The embryology and incidence of the lesion are briefly discussed.     

Extensive cervical spinal cord lesion with late foetal presentation

Neonatal cervical spinal cord injury occurring in the perinatal period is rare but has been described after both traumatic and atraumatic birth. Recently, a case of atraumatic, late third trimester, pre-labour presentation has been described. We report a second such case, but with important diagnostic differences and outcome. This case showed loss of foetal movements late in the third trimester. This was secondary to an extensive cervical lesion with no history of trauma. This emphasizes the need to consider cervical cord lesions when foetal or postnatal movements are reduced, even in the absence of trauma.     

Cystic metastatic cerebral neuroblastoma

Intracerebral neuroblastoma is an exceedingly rare manifestation of intracranial neuroblastoma and has been described as a solid lesion. Cystic metastatic intracerebral neuroblastoma has not been described. We report a case of histologically proven metastatic intracerebral neuroblastoma presenting in a cystic form 1 year after diagnosis and treatment of a solid intra-abdominal neuroblastoma. The imaging and clinical appearance of this case was indistinguishable from that of intracerebral cystic lesions caused by infection or inflammation. It has been suggested that, due to more aggressive treatment of neuroblastoma, patients are surviving longer and consequently intracranial involvement is becoming more frequent. It is important to be aware of this cystic manifestation of the disease.