Ectopic production of prolactin in an infant with non-Hodgkin lymphoma.
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Diagnosis, Differential↗
Biomedical subjects
C F Torres
Publications and source records attributed to C F Torres.
Multiple ependymomas in a patient with Turcot's syndrome.
A 21-year-old woman was diagnosed with Turcot's syndrome (TS) at age 16 years. She had two ependymomas, one was located in the left middle cerebellar peduncle and the other in the low sacral spinal canal. Her mother and brother both had colectomies for colonic polyposis. Her maternal uncle and grandfather also had this disease and both died from cancer of the colon in their fourth decade of life. The patient was found to have hyperpigmented spots in the retina, skull osteomas and normal neurological examinations. The bone scan and CSF were normal and she had a germline mutation in the segment 3 of the adenomatous polyposis coli (APC) gene. Following partial resection of the two ependymomas, she was treated with radiation and chemotherapy. One year after surgery, paraspinal desmoid tumors were found and removed. She is presently 42 months postsurgical resection of the neural tumors and has remained central nervous system tumor-free. The occurrence of multiple ependymoma in TS has not been reported, and the control of this patient's ependymomas is consistent with other reports of long-term survival with TS and glial tumors.
Adenomatous Polyposis Coli↗
Primary leptomeningeal histiocytic lymphoma in a young child.
A 20-month-old boy had an 8-week history of vomiting, lethargy, generalized muscle weakness, and seizures. There was no history or clinical signs of an underlying systemic disease or an immunodeficiency. Cerebrospinal fluid (CSF) had 99 nucleated cells/cu mm, malignant cells, high protein and normal glucose. CT and MRI scans showed diffuse meningeal enhancement around the brain and spinal cord, but no parenchymal involvement. Biopsy of the leptomeninges showed malignant cells with marked nuclear pleomorphism and prominent clear to eosinophilic cytoplasm. The immunohistochemical studies were positive for histiocyte-macrophage markers and were negative with T and B cells, Ki-1, neural and glial cell antibodies. Multiple tests revealed no other site of disease. The patient died 3 months after onset of treatment despite intensive i.v. and intrathecal chemotherapy. We have not found any other reported case of primary histiocytic leptomeningeal lymphoma in a young child.
Humans↗
Accidental penetrating cervical cord injury in a young child.
A three-year-old child presented to our emergency department with a hemiparesis five days following the accidental laceration of her neck with a piece of glass. The laceration had been thought to be superficial when she was initially evaluated. When seen again three days following the injury because of right-sided weakness, computerized tomography of her head and neck was unrevealing. However, using high resolution magnetic resonance imaging (MRI) we were able to demonstrate a C1-2 cord contusion and an injury tract leading from the surface of the neck to this site. The unusual mechanism of injury and the underlying pathophysiology of this patient's presentation are reviewed. It is important for the emergency physician to be reminded that what appears to be a superficial laceration can sometimes be more serious. MRI should be considered in the evaluation of patients who have suffered penetrating trauma if the potential for spinal cord injury exists and especially when there are signs or symptoms suggesting spinal cord dysfunction.
Accidents, Home↗
Surveillance scanning of children with medulloblastoma.
BACKGROUND: The standard follow-up care for children with medulloblastoma includes regular clinical evaluations and surveillance scanning of the central nervous system with computed tomography or magnetic resonance imaging. The evaluations and scanning assess the response of the tumor to treatment, detect any recurrence of disease, and monitor any complications of treatment. We compared the effectiveness of a periodic history taking and physical examination with that of surveillance scanning in detecting recurrent tumors. METHODS: We reviewed the medical records, including 794 scanning reports or scans, of 86 children with posterior fossa medulloblastoma who were followed regularly between 1980 and 1991. Recurrent tumors were classified as symptomatic if neuroimaging studies had been prompted by clinical symptoms or signs and as radiographic if the tumor had been detected by imaging in an asymptomatic patient. RESULTS: Twenty-three of the 86 children (27 percent) had a recurrence of tumor. Four recurrences (17 percent) were detected on scanning only, and 19 (83 percent) were associated with symptoms arising a median of four months after the previous scan. The median and range of survival after a recurrence of the tumor were 5 months and < 1 to 38 months, respectively, for a symptomatic recurrence and 20 months and 10 to 32 months, respectively, for a radiographic recurrence (P = 0.03). No patient survived after a recurrence. The longer survival of patients with recurrent tumors detected by scanning most likely reflects the small number of patients and lead-time and length biases associated with screening. CONCLUSIONS: Among children with medulloblastoma, surveillance scanning is of little clinical value. Scanning detected a minority of recurrences, and no patient who had a recurrence survived.
Adolescent↗
Early predictors of poor outcome in congenital fiber-type disproportion myopathy.
We report the cases of eight children with histologic findings in the muscle of congenital fiber-type disproportion myopathy. Five had severe muscle weakness at birth; three of them died at 6 months, 18 months, and 6.5 years of age, respectively, and the other two are ventilator dependent and need total care at 2.5 and 4 years of age. The five children with severe weakness at birth had profound respiratory muscle weakness and needed assisted ventilation since early infancy. They also had severe facial and bulbar muscle weakness that required tube feeding, and four had gastrostomy. Ptosis and marked external ophthalmoparesis were also noted. Our study shows that the presence of the above constellation of signs at birth or in early infancy is a predictor of a high rate of mortality in infancy and poor developmental outcome in the survivors.
Child↗
Generalized cortical dysplasia. Clinical and pathologic aspects.
Three children with profound mental retardation and intractable seizures died at ages 10 months, 3 years, and 7 years, respectively. Complete examination of their brains showed generalized cortical dysplasia, without any major malformation of the external gyral pattern. The neuropathologic features of cortical dysplasia include abnormally thickened cortex with indistinct demarcation of the gray-white matter junction. In many areas, the cortex contained increased numbers of large neurons with disordered cortical lamination. Heterotopic neurons were scattered throughout the white matter with decreased myelination of the underlying white matter. To our knowledge, these cases represent the first fully detailed neuropathologic study of diffuse cortical dysplasia--a newly recognized entity of abnormal neuronal migration.
Cerebral Cortex↗
Hypothyroid neuropathy and myopathy: clinical and electrodiagnostic longitudinal findings.
The clinical and electrodiagnostic findings before and during 6 years of therapy are reported in a 59-year-old man with severe hypothyroidism. He had severe sensory neuropathy, carpal and tarsal tunnel syndromes, mild motor neuropathy and moderately severe myopathy. The sensory signs and symptoms disappeared in the 3rd and 4th years of treatment, respectively. Muscle cramps and pain subsided within 2 years, but mild proximal muscle weakness and atrophy persisted. The sensory distal latencies remained slightly prolonged and the electromyographic changes improved. This case shows that thyroid hormone replacement eliminates the neuropathic manifestations of severe hypothyroidism. In contrast, the myopathic features, such as weakness and muscle wasting, may persist despite maintenance of the euthyroid state.
Electrodiagnosis↗
Severe neonatal centronuclear myopathy with autosomal dominant inheritance.
We studied a boy with severe infantile centronuclear myopathy (CNM) and his mother with clinical, electrophysiological, and pathological signs of skeletal muscle, peripheral nerve, and brain-stem disorder, and we believe that her condition represents a variation of her son's disease. His brother had similar symptoms and died at 4 days of age. The occurrence of this syndrome in a symptomatic mother and two severely affected sons suggests an autosomal dominant inheritance with variable expressivity. To our knowledge, this inheritance pattern has not been previously reported in severe (fatal) infantile CNM. The different courses in the mother and her offspring may be manifestations of a single or separate abnormal gene causing alteration of muscle and nerve maturation.
Child↗
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel.
Five familial cases (in two families) and one sporadic case of a new congenital myasthenic syndrome were investigated. Symptoms arise in infancy or later life. Typically, one finds selective involvement of cervical, scapular, and finger extensor muscles, ophthalmoparesis, and variable involvement of other muscles. There is a repetitive muscle action potential to single nerve stimulus in all muscles and a decremental response at 2 to 3 Hz stimulation in clinical affected muscles. Microelectrode studies reveal markedly prolonged end-plate potential (epp), miniature end-plate potential (mepp), and miniature end-plate current; normal quantum content of the epp; and a smaller than normal or low-normal mepp amplitude. Light microscopy demonstrates predominance of type I fibers, small groups of atrophic fibers, tubular aggregates and vacuoles near end-plates, abnormal end-plate configuration, and nonspecific myopathic changes. Abundant acetylcholinesterase activity is present at all end-plates, and the activity and kinetic properties of this enzyme in muscle are normal. Calcium accumulated at the end-plate in one patient. Quantitative electron microscopy shows decrease in the size of nerve terminals, increase in the density of synaptic vesicles, and reduction in the length of postsynaptic membranes. There is focal degeneration of junctional folds with corresponding loss of acetylcholine receptor, most marked in cases with the lowest mepp amplitude. There are no immune complexes at the end-plate. Fiber regions near end-plates display dilation, proliferation, and degeneration of the sarcoplasmic reticulum; nuclear, mitochondrial, and myofibrillar degeneration; and vacuoles resembling those found in periodic paralysis. A prolonged open time of the acetylcholine-induced ion channel is considered to be the basic abnormality and may account for the physiological, morphological, and clinical alterations.
Acetylcholine↗
Hypokalemic periodic paralysis exacerbated by acetazolamide.
Although acetazolamide usually prevents paralytic attacks in hypokalemic periodic paralysis, not all patients benefit from this treatment. We studied a father and two sons in whom attack frequency and severity increased on acetazolamide. Administration of triamterene virtually abolished attacks in three separate single-blind trials totaling more than 12 months. Spontaneous and glucose-insulin provoked occurred with only slight hypokalemia. Acetazolamide produced slight hypokalemia and provoked attacks of weakness whereas triamterene increased potassium levels significantly. Certain patients with hypokalemic periodic paralysis are worsened by acetazolamide, perhaps because of its kaliopenic effect. Triamterene may be effective in some of these patients.
Acetazolamide↗
Penicillamine-induced myasthenia gravis in progressive systemic sclerosis.
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Adult↗
Investigations of 3 cases of a newly recognized familial, congenital myasthenic syndrome.
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Acetylcholine↗
Muscle weakness in infants with rickets: distribution, course, and recovery.
We describe the distribution, progression, and resolution of muscle weakness, wasting, and hypotonia in three infants with rickets due to different causes. Progressive muscle weakness affecting preferentially the proximal muscles of the legs and failure to gain weight were the presenting symptoms. The skeletal signs appeared later in the course of the illness and the time for resolution of the neuromuscular findings varied with the etiology of the disorder.
Calcium Gluconate↗