Diffuse intrinsic brainstem disease with neurologic deterioration: not what it seemed.
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Adolescent↗
Biomedical subjects
L Kornreich
Publications and source records attributed to L Kornreich.
Severe allergic bronchopulmonary aspergillosis in an infant with cystic fibrosis and her asthmatic father.
An infant with cystic fibrosis and her asthmatic father were diagnosed as suffering from allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis was diagnosed in the infant at 6 weeks of age, and gene mutations were W1282X/G542X. She was diagnosed definitively as suffering from ABPA at age 3.5 years, but had suggestive symptoms from age 11 months. This may be the youngest age described to date for ABPA. The child responded well to systemic steroid therapy, but remained steroid-dependent over the next 4 years. Treatment with itraconazole enabled a marked reduction in steroid dosage. The father was an asthmatic, and a heterozygote for the cystic fibrosis transmembrane regulator (CFTR) mutation W1282X. He had a normal sweat test, atopy, and moderate reversible airway obstruction. There was no proven exposure to Aspergillus in the home environment. The importance of considering the diagnosis of ABPA even in infancy, the therapeutic dilemmas, and the possible role of abnormal CFTR function in the development of ABPA are discussed.
Adult↗
Visual pathway tumors and hydrocephalus.
The authors evaluated the impact of hydrocephalus on the clinical picture of children with visual pathway tumor (VPT) with or without neurofibromatosis (NF). Charts of children with VPT treated in the authors' center since 1985 were retrospectively reviewed, and those with hydrocephalus were selected and summarized. Thirty-five children with VPT were found, of whom 20 had NF. Hydrocephalus was found in 4 children with NF (20%) and in 5 without NF (33.3%). In 6 of the children, ventricular dilatation with signs of acute increased intracranial pressure already existed at the time of diagnosis and the hydrocephalus was shunted at this time. In the other 3 children, all with NF, the hydrocephalus resulted from slowly developing aqueductal stenosis, leading in 2 to severe visual acuity deterioration. The results suggest that in children with VPT and NF, hydrocephalus, and especially hydrocephalus resulting from aqueductal stenosis, is more frequent than in the general population of NF patients, and less frequent than in VPT patients without NF. The possibility of the indolent development of hydrocephalus should be borne in mind while following children with NF. The optic nerve, when already involved with a glioma, is more vulnerable to increased pressure. Thus, in children with VPT and NF, any ventricular dilatation should lead to a consideration of early shunting.
Child↗
Subacute central nervous system degeneration in a child: an unusual manifestation of ifosfamide intoxication.
A 5-year-old child with desmoplastic small round-cell tumor was treated with a protocol of very-high-dose, short-term chemotherapy, containing HD-CAV (cyclophosphamide, doxorubicin, vincristine, and mesna), ifosfamide, and etoposide. Two days after the initiation of ifosfamide, he exhibited new-onset lethal encephalopathy manifested by subacutely progressive cerebellar and then temporal and frontocortical degeneration leading to a vegetative state and eventually to death. A full work-up, including brain biopsy, was negative, excluding infections and metabolic or vascular causes. Ifosfamide is known to be capable of causing acute encephalopathy that can be severe but is generally reversible. This child showed a very atypical progressive, lethal course of ifosfamide toxicity. The possibility of this complication should be considered when high-dose ifosfamide treatment is planned for children.
Antineoplastic Combined Chemotherapy Protocols↗
Methotrexate treatment protocols and the central nervous system: significant cure with significant neurotoxicity.
Methotrexate can influence the central nervous system through several metabolic toxic pathways. These effects can be categorized as immediate, acute to subacute, or chronic neurologic syndromes. The acute to subacute syndrome occurs frequently in acute lymphoblastic leukemia treatment protocols, generally manifesting with focal neurologic signs and changes seen on magnetic resonance imaging and single photon emission computed tomography. While in some patients the neurotoxicity is transient and benign and allows for continuation of chemotherapy, in others it can be quite severe and debilitating, leading to permanent neurologic deficits. The need to modify the treatment protocols when neurotoxicity appears is not fully established. It is also unknown whether the use of sufficient amounts of leucovorin can overcome the toxic effects of the drug.
Adolescent↗
Traumatic adrenal injury in children.
BACKGROUND: Multiple organ injury in children is an increasingly frequent phenomenon in the modern emergency room. Adrenal hemorrhage associated with this type of trauma has received little attention in the past. OBJECTIVES: Using computed tomography, we sought to determine the rate and nature of adrenal gland injury in children following blunt abdominal trauma due to motor vehicular accident. METHODS: A total of 121 children with blunt abdominal trauma were examined and total body CT was performed in cases of multi-organ trauma or severe neurological injury. RESULTS: Of all the children who presented with blunt abdominal trauma over a 51 month period, 6 (4.95%) had adrenal hemorrhage. In all cases only the right adrenal gland was affected. Coincidental injury to the chest and other abdominal organs was noted in 66.7% and 50% of patients, respectively. CONCLUSIONS: Traumatic adrenal injury in the pediatric population may be more common than previously suspected. Widespread application of the more sophisticated imaging modalities available today will improve the detection of damage to the smaller organs in major collision injuries and will help in directing attention to the mechanism of trauma.
Abdominal Injuries↗
Osteoid osteoma: resection with CT guidance.
BACKGROUND: Osteoid osteoma is a benign bone lesion characterized by nocturnal pain mostly, which may be relieved by non-steroidal prostaglandin inhibitors. Treatment by complete resection of the nidus immediately relieves the pain. Intraoperative location of the nidus may be difficult, and extensive bone resection may be necessary to ensure complete excision. Few studies have described resection of osteoid osteoma under CT guidance, and little attention has been given to lesions near the neurovascular bundle. OBJECTIVE: To report our results of osteoid osteoma resection under CT guidance, with specific attention to lesions lying near the neural structure. METHODS: Nine patients with suspected osteoid osteoma underwent resection with a 6.8 mm core drill under CT guidance. RESULTS: Histologic confirmation was obtained in seven patients, while in two there was no evidence of the nidus in the excised bone material. All nine reported complete pain relief immediately after the surgery. Postoperative CT scan showed complete removal of the osteoid osteoma. CONCLUSIONS: Removal of osteoid osteoma under CT guidance is simple, safe and allows complete removal of the nidus with low morbidity.
Adolescent↗
Meyer dysplasia in the differential diagnosis of hip disease in young children.
OBJECTIVES: To describe a rare developmental disorder of the femoral capital epiphysis in infants and children that is often misdiagnosed and to suggest an evaluation protocol to differentiate it from other hip problems. DESIGN: Case series. SETTING: Tertiary care center. SUBJECTS: Five consecutive patients referred for evaluation of acute onset of limping between January 1990 and December 1997. INTERVENTION: All clinical and imaging data were collected. RESULTS: Two of the 5 patients were initially diagnosed as having osteomyelitis and 3 as having Perthes disease. The diagnosis of Meyer dysplasia was confirmed by plain film of the pelvis, a negative bone scan, or normal bone marrow findings on magnetic resonance imaging. The limping resolved without treatment in all patients within 1 to 3 weeks. CONCLUSIONS: Meyer dysplasia is a benign condition that should be included in the differential diagnosis of hip disease in infants and children. Awareness of this condition may prevent unnecessary hospitalization and treatment.
Child, Preschool↗
Spontaneous splenic rupture in infectious mononucleosis: conservative management with gradual percutaneous drainage of a subcapsular hematoma.
Spontaneous splenic rupture (SSR) is a rare but potentially lethal complication of infectious mononucleosis (IM). Because the inflamed spleen is usually enlarged, congested, and friable, emergency splenectomy is recommended. We describe the conservative management of a SSR in a 16-year-old boy with IM. A pigtail catheter was inserted under ultrasonographic guidance and left in place for 36 h. This allowed the successful evacuation of the hematoma without compromising the splenic parenchyma.
Adolescent↗
Postingestive chemosensation and feeding by leeches.
Distinct chemical cues acting on chemosensory structures on the dorsal lip of bloodsucking leeches activate the entire complement of appetitive and ingestive feeding behaviors. However, it is not known whether the maintenance of ingestion depends on continuous stimulation of these peripheral chemosensors. Leeches of the species Hirudo medicinalis and Macrobdella decora were fed for 2 min on an artificial blood solution containing 150 mM NaCl/1 mM arginine before switching the feeding solution to various experimental mixtures. Leeches did not start to feed on, but continued to ingest solutions in which equiosmolar KCl or lysine substituted for NaCl or arginine, respectively, until sated. In contrast, they rejected water and dropped off the feeding apparatus within 30 s of the exchange. Leeches also detached from the feeding tube when quinine, denatonium, or caffeine were added to the NaCl/arginine solution during an ongoing feeding bout. The duration of ingestion following the switch correlated inversely with the concentration of the drugs (0.1-10 mM). Superfusion of the dorsal lip with high concentrations of the bitter chemicals, while feeding was in progress, had no effect on the duration of ingestion. However, injections of the bitter substances directly into the gut, during a feeding bout, abruptly stopped ingestion. The results suggest that while leeches continue to sample their food once ingestion has begun, secondary chemosensory mechanisms situated downstream from the dorsal lip may be involved in the maintenance of ingestion and the rapid postingestive rejection of noxious foods.
Animals↗
Intracranial osteosarcoma: report of four cases and review of the literature.
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Brain Neoplasms↗
Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome).
We describe a previously unreported finding of periventricular heterotopias in a brain magnetic resonance imaging (MRI) study, in a girl with adrenocortical insufficiency, alacrima, achalasia, and neurologic deterioration (Allgrove syndrome). This finding could indicate that the underlying mechanism in this syndrome can be traced to the first half of fetal life and also might cause abnormal neuronal migration. This disorder recently has been linked to chromosome 12q13. There could be several explanations for the clinical heterogeneity in this syndrome: a contiguous gene syndrome involving multiple genes, including one whose deletion causes heterotopias, or a deficiency of a gene for a neurotrophic factor active during pre- and postnatal life and responsible for both migration and survival of neurons could be the cause. The identification of the responsible gene(s) will lead to further understanding of this multisystem disorder.
Adrenal Insufficiency↗
Involvement of the foot and ankle in patients with Gaucher disease.
Of 48 children with type I Gaucher disease treated at our hospital, 11 had involvement of the foot and ankle that first appeared in adolescence. Follow-up ranged from 3 to 27 years (average, 10 years). We reviewed their clinical and radiographic histories. Patients presented with four types of pain: six (7 events of pain) complained of dull pain defined as nonspecific; seven (11 events) had severe pain caused by bone crisis; two (2 events) had moderate progressive pain caused by pathological fractures; and one had painful swollen ankles caused by degenerative arthritis. Greater awareness of these complications in patients with Gaucher disease will prevent misdiagnosis and lead to early treatment.
Adolescent↗
Autosomal recessive microcephaly with neonatal myoclonic seizures: clinical and MRI findings.
We describe an infant who was born to a consanguineous couple of Palestinian origin. The patient had severe microcephaly, myoclonic seizures, hypsarrythmia, spasticity, hypertonicity, and profound mental retardation. A similar case was reported in another unrelated Palestinian family, suggesting that this condition may be endemic. The condition resembles early onset myoclonic seizures and spasticity described by Tolmie et al.: Am J Med Genet 27:583-594 [1987]. To the best of our knowledge, only four pairs of sibs have been described with this syndrome; however, to date no magnetic resonance imaging (MRI) findings were reported for this condition. We present the clinical and radiological findings in the patients, including the first report of MRI findings.
Consanguinity↗
Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease.
Patients with type I Gaucher disease often present as adults with a mild disease and with less severe genetic mutations, especially 1226G/1226G (N370S/N370S). Patients presenting as children have an excess of compound heterozygotes of N370S and other mutations, such as 84GG, 1448C (L444P) and IVS2 + 1 in whom bone disease is common. We report our experience with low-dose high-frequency enzyme replacement therapy in such severely affected children. Ten patients (with severe juvenile onset type I Gaucher disease) were treated. Alglucerase (Ceredase) was infused at 30 units/kg/month in 13 fractions/month for more than one year. Bone disease was used as the main criterion for evaluating treatment results. No fractures occurred in spite of the fact that bone crises occurred in four patients after 12 to 24 months of treatment, in two during the third year, and in one during the fifth year. Nonosseous manifestations improved with treatment. The ability of low-dose high frequency alglucerase to prevent fractures in the presence of continuing bone crises was demonstrated.
Adolescent↗
Effect of normal ageing on the sites of aortic bifurcation and inferior vena cava confluence: a CT study.
The object of this retrospective study was to determine the sites of abdominal aortic bifurcation and inferior vena cava confluence in relation to age and sex. The study group comprised 180 subjects (90 males and 90 females) divided into 9 groups by age (in decades). The positions of the aortic bifurcation and the inferior vena cava confluence were evaluated by CT, and linear regression models were fitted to the data. The positions of the aortic bifurcation and venous confluence showed a highly significant downward shift with increasing age (p = 0.0001). The shift was more pronounced in women. The mean site of the aortic bifurcation for the whole group was at lower L4 (range, upper L3 to upper S1); in males, it was at upper L4 (range, upper L3 to upper L5), and in females at lower L4 (range, upper L3 to upper S1). The mean site of the venous confluence for the whole group was at disc L4-L5 (range, lower L3 to upper S1); in males, it was at disc L4-L5 (range, upper L4 to disc L5-S1), and in females at disc L4-L5 (range, lower L3 to upper S1). Thus, the aorta and the inferior vena cava can extend as low as the level of S1. These data are of relevance in laparoscopic procedures, especially in laparoscopic lumbar discectomy.
Adolescent↗
Diffuse brain stem gliomas. Are we improving outcome?
We reviewed our experience with diffuse brain stem glioma (dBSG) to evaluate whether any improvement of outcome had occurred in our patients over the years. Of the 24 children referred to our department with suspected dBSG from 1981 to 1997, 5 had a different final diagnosis based on the clinical course. Mean survival in the remainder was 16+/-9.8 months from diagnosis. Survival increased with a longer interval from onset of symptoms to diagnosis (12.9+/-9.0 months with an interval of 1-4 weeks; 19.50+/-10.8 months with a longer interval). Visual symptoms at presentation were associated with a poorer prognosis. Survival was better in the 3- to 5-year age group (at diagnosis). Overall, a trend toward a slight improvement in survival was seen over the years, which we presumptively attribute to the introduction of intensive chemotherapy for these patients. We suggest that chemotherapy may be important in the management of dBSG until a better modality is found.
Adolescent↗