An unusual bone dysplasia

Summary A report of an unusual generalised disease of the bones is described. The condition is symmetrical and is characterised by palpable expansion of all the long bones throughout their lengths. Radiological findings have been described and illustrated. The conditions with which this case may be confused have been discussed. It has been suggested that this is a new clinical entity not described before.     

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.     

INFANTILE POLYARTERITIS AND KAWASAKI DISEASE

Abstract. Polyarteritis in infancy is very rare, difficult to diagnose and invariably fatal. A 6-month-old girl who presented with a prolonged unexplained fever and was subsequently demonstrated at post-mortem examination to have polyarteritis is described. The combination of polyarteritis with some unusual presenting features suggests that the case described is one of the Mucocutaneous Lymph Node Syndrome (M.L.N.S.) or Kawasaki Disease. Polyarteritis and Kawasaki Disease are discussed with reference to the case described.     

Muscular hypertrophy of the oesophagus and “Alport-like” glomerular lesions in a boy

A patient with idiopathic muscular hypertrophy of the oesophagus, bilateral cataracts and an Alport-like nephropathy is described. Only 15 patients with a similar association have been described so far and autosomal dominant inheritance is most likely.     

Renal abnormalities and spondylometaphyseal dysplasia

A renal lesion has not been previously described in association with spondylometaphyseal dysplasia. A case of nephrotic syndrome with progression to renal failure from focal segmental glomerulosclerosis is described.     

Renal abnormalities and spondylometaphyseal dysplasia

Abstract A renal lesion has not been previously described in association with spondylometaphyseal dysplasia. A case of nephrotic syndrome with progression to renal failure from focal segmental glomerulosclerosis is described.     

A new approach to measure restlessness

A new method to measure restlessness is described. It consists mainly of recording thoracic electrical impedance and measuring the amount of movement artifacts appearing in the pneumographs. Technical equipment and data evaluation are described; an example of typical data is given together with proposals as to how the method may be automated. Potential applications in different fields of interest are described.     

Recurrent parotitis.

Recurrent parotitis in children is a well described but rare condition of unknown cause. The clinical features of 11 children with recurrent parotitis are described.     

Recurrent parotitis.

Recurrent parotitis in children is a well described but rare condition of unknown cause. The clinical features of 11 children with recurrent parotitis are described.     

Congenital heart disease and neuroblastoma: just coincidence?

The clinical history of a neonate with simple transposition of the great arteries in whom a metastatic neuroblastoma was diagnosed incidentally at autopsy is described, and the literature containing all 66 previously reported cases of neuroblastoma associated with congenital cardiac malformations is reviewed. One third of the described cases were classified as in situ neuroblastoma; neural crest derived cardiac lesions were present in 31%. Several possible aetiological mechanisms are discussed, and we conclude that the association of neuroblastoma with congenital cardiac malformations is multifactorial in origin. The described case represents the first reported example in which catecholamine release may have contributed to the fatal outcome of definitive congenital cardiac surgery.     

Chromosome 15 in floppy infants

Three children with Prader-Willi syndrome and chromosome abnormalities affecting chromosome 15 are described and the literature is reviewed. The usefulness of chromosome analysis in the investigation of the floppy infant is illustrated by two of the cases described. Twenty-three other children with similar clinical features had normal chromosomes.     

Clicks,Whoops, and Honks

5 children are described with the midsystolic click—systolic murmur syndrome, sometimes accompanied by honks or whoops. The characteristic variation in auscultatory findings with posture is shown. The theory as to the mechanism of production of these findings is described, together with their aetiologies, prognosis, and treatment.     

A Case of Beckwith-Wiedemann Syndrome with Conductive Hearing Loss

ABSTRACT. A case of Beckwith-Wiedemann syndrome with conductive hearing loss due to fixation of the stapes is described. This is the second case described in the literature. However, some patients may not have been diagnosed. We suggest that hearing of patients with BWS should be tested at intervals from early childhood.     

Aortic aneurysm complicating bacterial endocarditis in childhood

Bacterial endocarditis is an uncommon diagnosis in childhood with significant morbidity and mortality. Aortic aneurysm as a complication is well described in adults but there are few reports in the paediatric literature. Two children with bacterial endocarditis are described, whose illnesses were complicated by aortic aneurysm formation requiring surgical intervention.     

Congenital Pulmonary Lymphangiectasis

A typical case of congenital pulmonary lymphangiectasia is described and compared with earlier published cases. It is a rare malformation, only about 25 cases hitherto being described, The clinical picture in liveborn infants is characterized by severe respiratory distress appearing a short time after a delivery.     

Pediatric autoimmune myelofibrosis: Experience from a large pediatric tertiary care center

Autoimmune myelofibrosis (AIMF) is a rare disorder characterized by cytopenias and autoimmunity, with characteristic bone marrow findings that include lymphocytic infiltration and fibrosis. AIMF is described predominantly in adult populations who have systemic lupus erythematosis (SLE), with scant pediatric cases described mainly in older adolescents with SLE. Here, we described the largest single-center pediatric experience of pediatric autoimmune myelofibrosis (PAIMF) series, demonstrating both similarities and distinctions from the adult experience. Patients overall respond well to steroid therapy, but these patients were significantly younger, infrequently carried a diagnosis of SLE, and causative genetic lesions were identified in many cases.     

Marfan syndrome and medullary sponge kidney: case report and speculation on pathogenesis

The case of a 16 year old boy with Marfan syndrome, recurrent nephrolithiasis, and bilateral Medullary Sponge Kidney (MSKD) is described. This association was not previously described.     

Multiple pterygium syndrome

Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).     

A Case of Beckwith-Wiedemann Syndrome with Conductive Hearing Loss

ABSTRACT. A case of Beckwith-Wiedemann syndrome with conductive hearing loss due to fixation of the stapes is described. This is the second case described in the literature. However, some patients may not have been diagnosed. We suggest that hearing of patients with BWS should be tested at intervals from early childhood.     

5-alpha-Reductase deficiency causing male pseudohermaphroditism.

An infant with male pseudohermaphroditism due to deficiency of 5-alpha-reductase is described, the elder of two affected male siblings. These patients, who come from Pakistan, are the first to be described outside America.