Diffuse infiltrating retinoblastoma

A young child was examined for unilateral hyphema of 1 month duration with a questionable history of blunt trauma. Ultrasonography was negative for tumefaction. Two months later the media cleared, revealing a diffusely abnormal retina. Computed tomography demonstrated a diffusely thickened posterior pole containing calcium. Histopathology of the enucleated globe was consistent with a diffuse infiltrating retinoblastoma. This is the first report of computed tomographic findings in diffuse infiltrating retinoblastoma.     

Treatment of persistent hyperplastic primary vitreous

Thirty-two patients with persistent hyperplastic primary vitreous were examined by the author over a 10-year period. Two patients have been followed with conservative management. Thirty patients were treated with surgery involving lensectomy with anterior vitrectomy being performed as the minimal treatment, with a few patients being treated with a full vitrectomy and dissection of the PHPV stalk from the posterior lens surface to the retina. The only eyes which obtained a good visual result were those eyes which contained only the anterior PHPV without the posterior segment being involved. While surgery on the posterior segment was anatomically successful, poor visual results were obtained due to retinal abnormalities. No eye has been removed. Five eyes have useful vision. Early treatment is advised in order to prevent underdevelopment of the orbit secondary to early enucleation as well as to treat amblyopia in those visually salvageable eyes.     

Hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia

Two cases of hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia in unrelated infants of 7 days and 4 months of age are reported. Blood ammonia levels were 100–300 μmol/l (normal values<40 μmol/l). The hyperammonaemia was asymptomatic and not associated with any of the abnormalities of amino acids or organic acids observed in urea cycle enzyme defects. Orotic aciduria was normal. The hyperammonaemia was not influenced by the levels of blood glucose nor by subtotal pancreatectomy. On admission blood glucose was ca. 1.2 mmol/l (21.6 mg/dl) corresponding to blood insulin levels of 35 and 22 mU/l respectively in both infants. Continuous intravenous glucose perfusion was necessary to prevent hypoglycaemia. Furthermore 2-oxoglutaric acid in urine was increased in the second infant to 3.15 mg/mg creatinine (normal 0.41 +/−0.12). This may point to mutations in the glutamate dehydrogenase gene. Conclusion 2-Oxoglutaric aciduria may be an important clue to the diagnose in this syndrome. Received: 6 January 1998 / Accepted: 25 November 1998     

Bilateral retinal vascular hypoplasia associated with persistence of the primary vitreous: a new clinical entity?

Three infant boys with a bilateral congenital retinopathy characterized by retinal vascular hypoplasia and persistence of the primary vitreous are described. The infants were healthy and had no non-ocular physical abnormalities. None had histories of prematurity or low birth weight. Family histories were negative to similar retinopathy, and the fundi of all examined blood relatives were normal. The described congenital retinopathy is compared and contrasted with persistent hyperplastic primary vitreous, Norrie's disease, idiopathic retinal dysplasia, familial exudative vitreoretinopathy, retinopathy of prematurity, and incontinentia pigmenti.     

Persistent hyperplastic primary vitreous in association with neurofibromatosis 2

We describe a father and son with persistent hyperplastic primary vitreous occurring in association with neurofibromatosis 2. This report demonstrates rare vertical transmission compatible with autosomal dominant inheritance and the uncommon association of the autosomal dominant systemic disorder neurofibromatosis 2.     

Trilateral retinoblastoma with suprasellar tumor and associated pineal cyst

Trilateral retinoblastoma (TRb) is a well-known syndrome associating hereditary retinoblastoma (Rb) with an intracranial neuroblastic tumor arising usually in the pineal region, rarely at the suprasellar or parasellar site. It develops in most cases after diagnosis of Rb. The outcome is usually fatal because of secondary spinal dissemination. Pineal cysts have recently been reported as a benign variant of TRb. We report the unusual presentation of a TRb in a 12-month-old boy with extensive bilateral Rb, a voluminous suprasellar tumor, pineal cyst, and leptomeningeal disease. The special features of this "quadrilateral" Rb are discussed.     

Bilateral persistent fetal vasculature associated with holoprosencephaly

A 3.26-kg neonate with a gestational age of 40 weeks presented with episodic hypothermia and seizures, but stable vital signs. Semilobar holoprosencephaly was seen on magnetic resonance imaging. Ocular examination revealed bilateral persistent fetal vasculature. As genetic testing was not contributory, toxic intrauterine environmental insulin causing neurologic maldevelopment was the presumed etiology.     

Second primary myogenic sarcoma in a patient with bilateral retinoblastoma

Retinoblastoma is the primary ocular malignancy affecting children under 6 years of age. The development of second malignant tumors in survivors of hereditary retinoblastoma is a well-known clinical entity and a major cause of morbidity and mortality. Rhabdomyosarcomas as second primary tumors have been only rarely described. The authors report a patient with bilateral retinoblastoma who developed a myogenic sarcoma of the orbit after 5.5 years of diagnosis. The short latency period may be explained by tumor histology with the contribution of radiotherapy and chemotherapy. The prognosis of second tumors is poor despite aggressive treatment.     

Diffuse pulmonary lymphangiectasia of late disclosure associated with cardiopathy

Congenital pulmonary lymphangiectasia is a rare abnormality with dilatation of pulmonary lymphatics and the radiological pattern of a pulmonary interstitial syndrome. It is usually symptomatic at birth and is almost always lethal. The authors report the case of an infant with congenital pulmonary lymphangiectasis and congenital heart disease who is still alive. This case report is interesting from the pathogenic, nosologic and prognostic point of view.     

Pediatric second primary malignancies after retinoblastoma treatment

Background

Children with retinoblastoma carry a high risk to develop second primary malignancies in childhood and adolescence. This study characterizes the type of pediatric second primary malignancies after retinoblastoma treatment and investigates the impact of different treatment strategies and prognostic factors at presentation.

Procedure

All national patients treated for retinoblastoma at the German referral center with a current age of 6–27 years were invited to participate in a study to characterize late effects.

Results

Data on pediatric second primary malignancies were recorded from 488 patients. Ten developed a malignancy before the age of 18 years. For children with heterozygous oncogenic RB1 alteration (heritable retinoblastoma), the cumulative incidence to develop a second malignancy at the age of 10 years was 5.2% (95% CI 1.7; 8.7%). This results in an elevated risk for sarcoma (n = 4) (SIR 147.98; 95% CI 39.81; 378.87) and leukemia (n = 4) (SIR 41.38; 95% CI 11.13; 105.95). Neither the functional type of the RB1 alteration nor its origin showed a significant impact. Treatment modality influenced incidence, latency, and type of malignancy. Previous radiotherapy increased the risk for solid tumors and 3 of 91 children developed acute leukemia after chemotherapy. However, 2 of 10 malignancies were diagnosed in patients with heritable retinoblastoma but without previous chemotherapy or external beam radiotherapy.

Conclusions

Screening for second primary malignancy is an important part of pediatric oncological follow‐up in patients with heritable retinoblastoma. For patients with sporadic unilateral retinoblastoma, genetic information influences treatment decisions and allows tailoring of follow‐up schedules. Pediatr Blood Cancer 2015;62:1799–1804. © 2015 Wiley Periodicals, Inc.     

Diffuse intravascular coagulation associated with brain tumor surgery in children

There have been numerous reported cases of diffuse intravascular coagulation (DIC) or defibrination syndrome associated with head trauma, but very few reported cases associated with primary brain tumor. This report concerns the findings in a case of DIC associated with brain tumor surgery in an infant. The patient died 2 days after surgery from acute renal and respiratory failure as a result of postoperative DIC. Therapy for DIC is controversial and shows mixed results.     

Enteroaggregative Escherichia coli and Salmonella associated with nondysenteric persistent diarrhea

A hospital-based case-control study including 92 children with diarrhea for longer than 14 days and 92 controls without gastrointestinal symptoms was performed to describe the association between the excretion of enteric pathogens and persistent diarrhea. In patients the most frequently isolated stool pathogens were enteroaggregative Escherichia coli (19.6%), nontyphoidal Salmonella spp. (17.4%), E. coli with diffuse adherence pattern (7.6%), G. lamblia (7.6%) and enterotoxigenic E. coli (5.4%). The excretion rates in patients were significantly greater than in controls only for nontyphoidal Salmonella spp. (P = 0.0006) and enteroaggregative E. coli (P = 0.016).     

Diffuse neonatal hemangiomatosis associated with Simpson-Golabi-Behmel syndrome: a case report.

Diffuse neonatal hemangiomatosis (DNH) is a rare disorder characterized by multiple cutaneous and visceral hemangiomas that usually presents in newborns and has a high mortality rate.While previously reported cases of DNH describe multiple cutaneous hemangiomas, we present a patient with a single hemangioma of the ear, who also had DNH of the central nervous system and visceral organs. Furthermore, in this report we present a new constellation of findings, namely, a Simpson-Golabi-Behmel syndrome (SGBS). The practical implication on the basis of the experience with our patient is the need to ensure adequate diagnostics for patients with large hemangiomas as well as for patients with multiple cutaneous hemangiomas, because DNH also can occur in single hemangiomas in rare cases.