Infantile Presenting Research Articles

Patterns of cerebral injury and clinical presentation in the vascular disruptive syndrome of monozygotic twins

The prenatal histories, clinical courses, and neuroradiographic studies of 8 infants who had survived the in utero demise of a homozygous co-twin were reviewed. Three distinct modes of clinical presentation were found: (1) severe neonatal encephalopathy with seizures; (2) a more benign neonatal course with onset of seizures and profound developmental disabilities within the first 6 months of age; (3) late infantile presentation with seizures. Only the third group had milder outcomes. Neuroradiographic studies demonstrated two pathologic patterns: varying degrees of periventricular white matter infarction with migrational abnormalities observed with earlier demise of the co-twin, and multicystic encephalomalacia observed when the demise occurred at or near term. Pathophysiology is uncertain and most likely multifactorial. Exsanguination injury to the survivor can occur acutely following co-twin demise, so urgent delivery may be appropriate at or near term.

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Major genes which cause tuberous sclerosis (TSC) and autosomal dominant polycystic kidney disease (ADPKD), known as TSC2 and PKD1 respectively, lie immediately adjacent to each other on chromosome 16p. Renal cysts are often found in TSC, but a specific renal phenotype, distinguished by the severity and infantile presentation of the cystic changes, is seen in a small proportion of cases. We have identified large deletions disrupting TSC2 and PKD1 in each of six such cases studied. Analysis of the deletions indicates that they inactivate PKD1, in contrast to the mutations reported in ADPKD patients, where in each case abnormal transcripts have been detected.

Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension

A patient with early infantile galactosialidosis presenting as congenital adrenal hyperplasia with clitoral hypertrophy and arterial hypertension is reported. Serum 17-α-OH-progesterone and plasma renin levels were elevated. Adrenal hyperplasia and thickening of the cardiac septum were detected by sonography; however, progressive hepatosplenomegaly, increasingly coarse features, and vacuolization of bone marrow and liver cells suggested a storage disorder. Combined deficiency of β-galactosidase and sialidase enzyme activity in both lymphocytes and cultured fibroblasts was detected. This patient with early infantile galactosialidosis is the first reported who presented with congenital adrenal hyperplasia.

Infantile Malignant Osteopetrosis Presenting as Bilateral Choanal Atresia: Report of Two Cases

Infantile Malignant Osteopetrosis Presenting as Bilateral Choanal Atresia: Report of Two Cases

Neuropathological observations in a case of autism presenting with self-injury behavior

We report the neuropathological evaluation of a 24-year-old autistic woman suffering from a residual state of infantile autism and presenting with self-injury behavior since childhood. Her behavior included head-banging, eye-gouging and self-biting. All intended therapeutic measures remained without effect, including high doses of psychotropic drugs. At autopsy, numerous neurofibrillary tangles were found in the perirhinal and entorhinal cortex where they were frequently grouped in nests or clusters. A few neurofibrillary tangles were also observed in the amygdala and in the prepiriform and orbito-frontal cortex. In the cortex, tangles were located in both layers II and III. There were no neuritic plaques or amyloid deposits. Interestingly, neurofibrillary tangles have been described in brains of individuals who had experienced repeated head injuries such as boxers (dementia pugilistica) and soccer players, suggesting that in our case a similar mechanism induced tangle formation and resulted in the loss of selective neuronal populations.

Solitary infantile myofibromatosis

Infantile myofibromatosis is an uncommon, benign, probably hamartomatous proliferation of myofibroblasts. Its growth is typically self-limiting but histologically it can simulate a sarcoma. A rare case of solitary infantile myofibromatosis presenting as an intraoral mass in a 10-year-old girl is reported.

Infantile beriberi presenting as subacute necrotizing encephalomyelopathy

A case report of a breast-fed infant with formula supplementation showed it to suffer from infantile beriberi with lesions similar to those observed in patients with subacute necrotizing encephalomyelopathy. A modified thiochrome method was used to measure thiamine content; lesions were revealed by a CT scan. Other cases of infantile beriberi reported in the U.S. since 1958 occurred in infants for whom an unusual formula had been prescribed; it would seem prudent that any restrictive diet should be administered with caution and supplemented with a multivitamin preparation containing thiamine

A clinicopathologic study of forty-eight infants with nephrotic syndrome

The clinical and histopathologic features of 48 children presenting with the nephrotic syndrome during the first year of life were analyzed. Proteinuria was discovered soon after birth to 3 months of age in 39 infants (congenital nephrotic syndrome), and nine infants had an infantile onset presenting between 4 and 12 months of age. Neither histologic parameters--microglomeruli, epithelial, or mesangial proliferation, focal segmental or global sclerosis, fibrinoid necrosis, or tubular microcysts--nor histologic classification--microcystic disease, mesangial proliferative glomerulonephritis, focal segmental glomerular sclerosis/hyalinosis-predicted the outcome. Rather, age at presentation was found to predict outcome: One of 39 infants with a congenital onset and seven of nine infants with an infantile onset underwent a complete remission (P less than 0.0001).

Infantile neuroblastoma presenting with cutaneous blanching nodules

An 8-week-old girl was seen because of firm, blue cutaneous nodules. A biopsy showed neuroblastoma. When rubbed, the nodules blanched and were surrounded with a halo of erythema. She had Horner's syndrome, hepatomegaly, bone marrow and shaft invasion, and a high thoracic mass with signs of spinal cord compression. Blanching cutaneous nodules are a unique finding in neuroblastoma and may be the first sign of this disease.

Infantile presentation of adult-type polycystic kidney disease in a large kindred

Case L Patient J. H., a premature Caucasian female infant, was delivered at 32 weeks' gestation by Cesarean section. The infant's initial Apgar rating was 2 and vigorous resuscitative efforts were begun. Shortly after birth the infant developed respiratory distress; roentgenograms of the chest were typical of hyaline membrane disease. No flank masses were palpable, and there was no evidence of renal dysfunction. The infant's hospital course was later complicated by the development of hydrocephalus, staphylococcal ventriculitis, and septicemia. The infant died at 38 days of age. At autopsy the infant weighed 2,070 gm. Body measurements were as follows: crown-rump length 30 cm, rump-heel length 19 cm, and head circumference 33 cm. Examination of the cranial contents was not permitted. The thoracic and abdominal organs, with the exception of the lungs and kidneys, were grossly and microscopically normal. No evidence of fibrosis or cystic change was present in the liver. Interstitial fibrosis and organizing hyaline membranes were present in the lungs, but there was no cyst formation or hypoplasia. The combined weight of the kidneys was 30 gin; they were bilaterally symmetric and of normal contour (Fig. 1). Over the surfaces of both kidneys were numerous small cysts that varied in

MEDULLOBLASTOMA WITH ONSET IN THE NEWBORN

SummaryNeonatal intracranial tumours are rare, nevertheless their presence should be suspected in cases of infantile hydrocephalus presenting in an atypical manner. Clinical features which will help to differentiate the 2 conditions are persistent vomiting, the finding of cranial nerve palsies and a raised protein content in the ventricular fluid. Early recognition of such cases may lead to considerable benefit from radiotherapy.