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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 22-year-old man with hydrocephalus caused by aqueductal stenosis. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar facies, postnatal growth deficiency, brachydactyly of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinal manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndrome, microcephaly, brain atrophy, GH deficiency, precocious puberty, delayed sexual development, and diabetes insipidus. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults.
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PMID:Kabuki make-up syndrome and report of a case with hydrocephalus. 969 34

An infant is described who had a combination of lobar holoprosencephaly and open-lip schizencephaly. Midline fusion of the basal ganglia was associated with bilateral absence of abundant parts of the brain mantle. Agenesis of the corpus callosum, hypoplasia of the optic nerves and chiasm, absence of the septum pellucidum, posterior pituitary and olfactory bulbs were further components of the malformation. Blindness, intractable seizures, spastic tetraplegia, somatomental retardation and diabetes insipidus were the main clinical features. A defect in the induction of the mediobasal part of the prosencephalon and failure of cell proliferation can be responsible for this complex malformation. Recent results of homeobox gene research relevant to the development of the prosencephalon are discussed.
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PMID:Mediobasal and mantle defect of the prosencephalon: lobar holoprosencephaly, schizencephaly and diabetes insipidus. 981 May 64

Virusencephalitis is characterised by clinical symptoms of a parenchymatous inflammation. In addition, early mental status changes often occur as a result of virusencephalitis, beside focal neurological deficiencies, epileptic seizures, cerebral compression, even coma. Other pathological manifestations of virusencephalitis are disturbances of the neurohumoral and the endocrine system, which are often recognised and treated too late. This case report describes symptoms, treatment, and complications of a 76 year old female in-patient, who was diagnosed with virusencephalitis. The number of lymphocytes in the cerebrospinal fluid was increased to 30 cells per microliter, liquor albumin was 1705 mg/l, liquor sugar was 53 mg/dl and liquor lactat was 1.9 mmol/l. IgM antibodies against herpes viruses were found in the cerebrospinal fluid and distinct contrasting foci were found near the mammillary bodies, hypothalamus, tractus opticus, hypophyseal stalk and right parahippocampal in the magnetic resonance imaging of the head, indicating a focal herpes simplex encephalitis. Within seven days, the following symptoms developed: akinetic parkinsonian syndrome, central diabetes insipidus with hypernatremia and polyuria (6 l/die), hypothyreosis, adrenal insufficiency with adynamia, sopor, hypotension and even hypophyseal coma. Panhypopituitarism was diagnosed after measuring the basal hormone levels (ACTH, TSH, FT3, FT4, Cortisol, Prolactin, LH, FSH, ADH) and conducting the pituitary stimulation test. The severeness of all symptoms was slightly improved after substitution with antidiuretic hormone at 0.4 microgram/die and administration of hydrocortisone at 50 mg/die. Administration of amantadine sulphate at 0.6 g/die and L-dopa at 187.5 mg/die for 14 days resulted in a complete regression of the parkinsonism. After administration of aciclovir at 2.25 g/die for 21 days a complete regression of the clinical symptoms could be reached in connection with a decrease of 90% in number and size of cerebral contrasting foci in the magnetic resonance imaging of the head. Three month after therapy, clinical examination and blood serum analysis revealed persistent panhypopituitarism. The present case report is the first description of a viral infection on of the central nervous system (CNS) in combination with parkinsonism, diabetes insipidus, persistent panhypopituitarism and hyperprolactinemia. Early treatment of viral infections of the brain can improve a patient's prognosis dramatically. Early determination and early treatment of a patient's neurohumoral parameters is therefore critical to prevent or reverse early mental status changes like attention disturbances, alterations of personality and behavior, apathy, and slowed cognition.
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PMID:[Virus encephalitis with symptomatic Parkinson syndrome, diabetes insipidus and panhypopituitarism]. 1059 69

To study the phenotypic spectrum and management of holoprosencephaly (HPE), we reviewed the findings of eight children with HPE from 3 to 10 years of age, who underwent intervention programs and rehabilitation at our center. One patient had alobar HPE, three semilobar HPE, and four lobar HPE. All patients had postnatal growth retardation, and seven showed a decreased BMI (< 25% tile). All patients had severe developmental delay and mental retardation (DQ < 40), showing no obvious correlation between their severity and the type of HPE. Neurologically seven patients had spasticity (3 spastic quadriplegia, 2 spastic diplegia, 2 mixed-type), except one patient with a 7q deletion [46,XY,del(7) (q35)] who had generalized hypotonia. Seven had variable types of seizures. All patients had feeding difficulties and were assessed by speech-language therapists. Four patients required tube feeding, four had gastroesophageal reflux disease. Recurrent respiratory tract infection was common. Three patients had abnormal serum sodium concentration (1 diabetes insipidus, 1 idiopathic hypernatremia, 1 hyponatremia). No family history of HPE was elicited. In conclusion, patients with HPE should be followed up closely for complications such as feeding difficulty, malnutrition, seizures, spasticity, infection, and osmoreceptor-hypothalamus-hypophyseal axis abnormalities.
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PMID:[Clinical spectrum and management of holoprosencephaly]. 1091 68

We report the cases of two children with cranial diabetes insipidus who were treated with lamotrigine for seizures and who had accompanying changes in desmopressin requirements. Lamotrigine is a new anticonvulsant chemically unrelated to other existing antiepileptic drugs. Studies suggest it acts at voltage-sensitive sodium channels and also decreases calcium conductance. Both of these mechanisms of action are shared by carbamazepine, which can cause hyponatraemia secondary to inappropriate secretion of antidiuretic hormone. It is possible that the effect of lamotrigine on fluid balance in the cases described is also centrally mediated.
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PMID:Hyponatraemia associated with lamotrigine in cranial diabetes insipidus. 1096 44

Status epilepticus causes significant morbidity and mortality. A case of generalized status epilepticus followed by massive pulmonary aspiration, acute respiratory failure and transient central diabetes insipidus is presented. Seizures were promptly controlled, but the patient required mechanical ventilation and correction of polyuria with desmopressin acetate. During hospitalization mental status improved, diabetes insipidus spontaneously remitted and he was discharged without neurologic sequelae. The clinical and pathophysiological features of this case are discussed.
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PMID:Generalized status epilepticus associated with massive pulmonary aspiration and transient central diabetes insipidus: case report. 1101 32

The hazards associated with invasive candidiasis and aspergillosis in oncology patients are well recognised. These conditions typically present late in treatment, often after prolonged or recurrent episodes of neutropenia. We report the occurrence of Absidia corymbifera infection causing rhinocerebral zygomycosis in two children with acute lymphoblastic leukaemia, early in the induction phase of treatment and within a 3-month interval, in the same oncology unit. The initial presentation of facial pain was rapidly followed by the development of cranial nerve palsies, cavernous sinus thrombosis, diabetes insipidus, seizures and death within 9 days of symptom onset, despite aggressive management with high-dose liposomal amphotericin (Ambisome), surgical debridement and local instillation of amphotericin solution. These cases highlight the need for awareness of zygomycosis as a potentially lethal fungal infection that can present even with short duration exposure to the usual risk factors. Their occurrence within a limited time period raises questions as to the relative importance of environmental exposure. The failure of medical and surgical intervention to impact on the course illustrates the need to develop appropriate preventative strategies which may have to incorporate measures to reduce the environmental exposure of susceptible patients.
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PMID:Rhinocerebral zygomycosis in childhood acute lymphoblastic leukaemia. 1131 46

Transient cortical blindness is an uncommon but well-known complication following cerebral angiography. One possible cause of this complication is an adverse reaction to contrast agent, resulting in an osmotic disruption of the blood-brain barrier that seems to be selective for the occipital cortex. We report the case of a 16-year-old male patient with cortical blindness after intravenous application of nonionic contrast agent during CT angiography performed because of seizure that was attributed to thrombosis of the basilar artery on the basis of clinical findings. To our knowledge, the development of cortical blindness after CT angiography has not been described in the literature. The patient's symptoms were triggered by hyponatriemia and diabetes insipidus.
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PMID:Cortical blindness after contrast-enhanced CT: complication in a patient with diabetes insipidus. 1281 35

Childhood panhypopituitarism may be acquired or congenital. Children with panhypopituitarism can present clinically with diabetes, growth failure, decreased bone density, and morbid obesity. In the forensic setting without the proper history, it can be misdiagnosed as child abuse or neglect. We report a case of a 3-year-old black girl who was admitted to the emergency room with apnea and subsequently died. While at the emergency department, it was discovered that the child had a fractured left hip and was severely growth retarded for age. The coroner wanted to rule out child abuse and/or neglect and requested an autopsy based on the physical findings identified by hospital staff. Significant findings at autopsy included small for age (15th percentile for age), hypoplastic brain/pituitary gland/adrenal gland/thyroid gland, abnormally formed skull with an occipital protuberance, a fractured left hip with decreased bone density, and central adiposity. Subsequent to the autopsy, it was discovered that at 6 weeks of age the child suffered from group B streptococci meningitis that resulted in panhypopituitarism. The panhypopituitarism then resulted in seizure activity, diabetes insipidus, and growth retardation. The authors hope this case report and review of the literature will assist investigators, pathologists, and clinicians in making a distinction between neglect or inflicted injury of child abuse and panhypopituitarism that can present with similar signs and symptoms.
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PMID:Childhood panhypopituitarism presenting as child abuse: a case report and review of the literature. 1532 73

Background. We have previously described the resection of hypothalamic hamartomas (HH) using a transcallosal approach [Transcallosal resection of hypothalamic hamartomas, with control of seizures, in children with gelastic epilepsy, Neurosurgery, 2001]. Since then, we have refined the technique and now describe in detail an anterior transcallosal transseptal interforniceal approach to the third ventricle as a variation of the standard transcallosal interforniceal approach. The results of this series are presented to demonstrate the safety and efficacy of this approach. Method. HH were resected via an anterior transcallosal, transseptal, interforniceal approach to the third ventricle. This is a more anterior approach to the third ventricle with a more acute trajectory than has been described previously. Results. This approach provided excellent access to the floor of the third ventricle with minimal forniceal retraction and avoidance of dissection of the deep venous structures. Transcallosal resection of HH was performed in 45 patients aged 2.9-33 years (mean 11.3 years). Morbidity was minimal, including transient hemiparesis in 3, ongoing diabetes insipidus in 2, early short-term memory impairment in 16 (persistent in 6) and one patient developed pneumonia postoperatively but recovered. Conclusion. The anterior transcallosal transseptal interforniceal technique is an effective and relatively safe technique when used for the resection of HH. This operative approach is applicable to other pathology in the third ventricle or hypothalamic region and has advantages compared with the standard transcallosal approach to the third ventricle.
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PMID:Operative technique: the anterior transcallosal transseptal interforniceal approach to the third ventricle and resection of hypothalamic hamartomas. 1533 37


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