Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome.

The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects. We report on the sixth child with this syndrome and the first of these to develop acute lymphoblastic leukemia at age 4 1/2 years. Her major problems included a migratory ichthyosiform dermatosis, multiple skin infections and infestations, bilateral retinal coloboma, developmental delay, seizures, infantile macrosomia, facial anomalies, a duplicated renal collecting system, and conductive hearing loss. Histologic examination of the skin demonstrated findings of an epidermal nevus with deep rete pegs, hyperkeratosis, and a markedly increased granular layer. The cause of the CHIME syndrome is unknown, but the disorder is easily recognized because of the striking phenotype. The diagnosis is important to make because of the potential for associated congenital heart disease, neurologic compromise, possible autosomal recessive inheritance, and possible association with malignancy.

Epidural hematoma of a cauda equina in a child with hemophilia A.

PURPOSE: The presenting signs, treatment, and outcome of an epidural hematoma of the cauda equina in a child with severe hemophilia are reported for the first time. PATIENTS AND METHODS: A 20-month-old boy with severe hemophilia A (factor VIII <0.01 U/ml) presented with a 12-day history of refusal to stand and constipation of 5-7 days duration. He had normal deep tendon reflexes with normal sensation and withdrawal to pinprick of his lower extremities bilaterally. He stood on his right leg, but had inversion of his left foot and refused to bear weight on his left leg. MRI revealed an epidural hematoma of the cauda equina and a distended bladder. Factor VIII replacement therapy and lumbosacral laminectomy with evacuation of the hematoma resulted in recovery of a normal gait, but bladder dysfunction persisted for 11 months. Clean intermittent catheterization (CIC) was required until bladder function returned. RESULTS: Complete neurologic recovery occurred 11 months after presentation CONCLUSION: This case demonstrates the following points: (a) an epidural hematoma of the cauda equina in a child with severe hemophilia can present with neurologic findings that are as subtle as those seen in normal children; (b) CIC can be performed safely over an extended period without factor VIII replacement; and (c) complete recovery is possible, despite prolonged bladder dysfunction and a 12-day interval between the onset of symptoms and treatment.

Congenital leukemia: report of two cases.

Congenital leukemia is a rare disease in which a leukemic process is present at birth or immediately thereafter. The majority of cases presented in the literature were reported prior to the availability of contemporary immunophenotyping methods, and lineage assignment was often made on the basis of morphology alone. Congenital leukemias may be of various lineages, although, historically, monocytic and myelomonocytic congenital leukemias appear to be the most prevalent. We present two cases of congenital leukemia with detailed immunophenotypic and cytochemical characterization. One case is of the lymphoid lineage, and the second is of myelomonocytic lineage. Neither patient displayed trisomy 21.

Spontaneous hemorrhage associated with accidental brodifacoum poisoning in a child.

A 36-month-old child had spontaneous hemorrhage from her nose, mouth, and urinary tract, and a fall in hemoglobin of 20 gm/L (2 gm/dl). The prothrombin time and partial thromboplastin time were markedly prolonged with a decrease in the vitamin K-dependent factors. The child had ingested brodifacoum, a long-acting rodenticide. Prolonged follow-up and treatment with vitamin K were necessary.

Delayed brain injury after head trauma: significance of coagulopathy.

We reviewed the records of 253 patients with head injury who required serial computed tomographic (CT) scans; 123 (48.6%) developed delayed brain injury as evidenced by new or progressive lesions after a CT scan. An abnormality in the prothrombin time, partial thromboplastin time, or platelet count at admission was present in 55% of the patients who showed evidence of delayed injury, and only 9% of those whose subsequent CT scans were unchanged or improved from the time of admission (P less than 0.001). Among patients developing delayed injury, mean prothrombin time at admission was significantly longer (14.6 vs. 12.6 s, P less than 0.001) and partial thromboplastin time was significantly longer (36.9 vs. 29.2 s, P less than 0.001) than patients who did not have delayed injury. If coagulation studies at admission were normal, a patient with head injury had a 31% risk of developing delayed insults. This risk rose to almost 85% if at least one clotting test at admission was abnormal (P less than 0.001). We conclude that clotting studies at admission are of value in predicting the occurrence of delayed injury. If coagulopathy is discovered in the patient with head injury early follow-up CT scanning is advocated to discover progressive and new intracranial lesions that are likely to occur.

Transfusion-associated graft-versus-host disease: historical perspectives, incidence, and current use of irradiated blood products.

Transfusion-associated graft-versus-host disease (TGVHD) has been reported in 131 patients as a complication of supportive treatment with an overall 90% mortality. This study was undertaken to define the historical incidence of TGVHD, its symptomatology, and mortality among affected patients by age, diagnosis, and blood product transfused. Although the use of irradiated blood products (IBPs) virtually eliminates the risk of this highly lethal complication, the use of IBPs appears variable. To ascertain current use of IBPs, questionnaires were sent to 100 pediatric and adult hematologists, oncologists, and bone marrow transplant physicians asking their perceptions about and actual use of IBPs. The results of the questionnaire, information on irradiation effects on cellular blood products, and current recommendations for irradiation of blood products are discussed.

Differences in immunoglobulin preparations for intravenous use: a comparison of six products.

The use of intravenous gamma globulin products in both children and adults has increased markedly over the past 5 years, since these agents were licensed in the United States. Product competition has become fierce, with each supplier touting the merits of its own product. A summary of the six products currently available in the United States is presented. Comparisons are made according to method of product manufacture, product specifications, antibody titers, opsonization data, IgG subclass quantification, ease of administration, and side effects.

Multiple chromosome aberrations in an infant with acute monoblastic leukemia.

A male infant was diagnosed at age 16 months with acute monoblastic leukemia. At diagnosis, studies of bone marrow revealed multiple chromosome aberrations: 48,XY,+8,+19,t(4;11). Chromosome studies have been repeated at remission and relapse over the course of his disease. To our knowledge, this combination of chromosome abnormalities has not been previously reported.

Recurrent strokes in two siblings with sickle-cell disease and von Willebrand's disease: implications of the role of platelets.

Antiplatelet therapy is known to be beneficial in reducing the incidence of transient ischemic attacks and cerebral infarctions in nonsickling populations. We report two siblings with homozygous sickle-disease and von Willebrand's disease who had recurrent cerebral infarctions (stokes) and transient ischemic attacks despite an inherent inhibitory platelet effect from their vWd and antiplatelet therapy. The development of stroke in patients with sickle hemoglobinopathies and the possible role of platelets and antiplatelet therapy in cerebrovascular accidents in sickle-cell anemia are discussed.

Chemotherapy-associated eccrine hidradenitis: neutrophilic eccrine hidradenitis reevaluated: the role of neutrophilic infiltration.

Two cases of chemotherapy-associated eccrine hidradenitis are presented. Previous cases have been labeled "neutrophilic eccrine hidradenitis" (NEH). Both cases reported herein involve neutropenic patients and are notable for the absence of neutrophils on histologic examination. Oncologists need to be aware of this newly described process, and this rash must be added to the differential diagnosis of the neutropenic oncology patient. The role of neutrophils in this disorder is discussed, and a new term, "chemotherapy-associated eccrine hidradenitis," is suggested for this unusual process.

Hazards of splenic embolization.

Perceived high operative risk for splenectomy in children with hematologic disorders and hypersplenism has led to attempts at transcatheter splenic embolization (TSE) as a possibly safer alternative. A recent experience with a child who presented with an apparent acute subcapsular hematoma after TSE and who underwent complicated emergency splenectomy prompted review of the risks and complications of TSE. Although theoretically attractive in many respects, TSE is associated with significant morbidity. The resultant diagnostic and therapeutic difficulties of this procedure can potentially complicate patient management, and the often life-threatening sequelae warrant considerable restraint in its use. In addition, TSE often fails to produce the desired, long-term hematologic response. Because of the morbidity and risk associated with TSE, primary operative intervention is advised for most children in whom splenectomy is indicated. Morbidity associated with the direct operative approach may be minimized by judicious use of blood components and by meticulous surgical technique.