Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

No abstract available.
Atrophy* ; Magnetic Resonance Imaging* ; Myelitis, Transverse* ; Spinal Cord*

No abstract available.
Rhabdomyolysis* ; Technetium Tc 99m Medronate*

BACKGROUND & OBJECTIVES: Subacute combined degeneration (SCD) is a disease of spinal cord involving the posterior and lateral column due to vitamin B12 deficiency. The clinical and electrophysiologic findings of SCD are various. METHODS: From 1989 to 1996, 7 patients were diagnosed with SCD in our hospitals. The diagnosis was made by the neurologic and laboratory findings and electrophysiolgic studies such as nerve conduction studies(NCS) and evoked potential(EP). RESULT: Four patients received gastrectomy. Two had chronic atrophic, gastritis; one of them was assumed to have food-cobalamin malabsorrtion. The remaining one was a heavy drinker. The mean duration of neurologic symptoms was 35.7 months. The most common initial complaint was paresthesia (in 4) and impairment of cutaneous sensation was the most common neurologic sign At the time of diagnosis, 5 patients had myelopathy with was supported by EP in 3(60%). There were abnormal NCS findings in 5 f 6 patients with peripheral neuropathy. In one patient, there was no symptom and sign compatible with myelopathy but median nerve SEP showed bilateral central conduction delay. No one had visual symptoms but prolongation of P 100 was detected in 2 patients. Sural nerve biopsy was done in 2 case, which revealed chronic nonspecific neuropatby in one and chronic axonopathy in the other. Megaloblastic anemia was found in 4 cases and improved by cobalamin therapy in all the parents, in which the follow up hematologic data were available. There as a tendency that nonanemic patients had more severe neurologic symptoms than anemic ones. We could not find any relationship between the duration and severity of neurologic menifestations was best in the patients with the shortest duration of neurologic manifestations and hematologic feature festations. CONCLUSIONS: The authors suggest that early detection and treatment is very important for the improvement of symptoms in SCD.
Anemia, Megaloblastic ; Biopsy ; Diagnosis ; Follow-Up Studies ; Gastrectomy ; Gastritis ; Humans ; Median Nerve ; Neural Conduction ; Neurologic Manifestations ; Parents ; Paresthesia ; Peripheral Nervous System Diseases ; Sensation ; Spinal Cord ; Spinal Cord Diseases ; Subacute Combined Degeneration* ; Sural Nerve ; Vitamin B 12 ; Vitamin B 12 Deficiency

No abstract available.
Endometrial Neoplasms* ; Female

No abstract available.
Capsid Proteins* ; Capsid* ; Genome*

No abstract available.
Umbilical Arteries*

The incidence of ectopic pregnancy has been increasing for many years and ectopic pregnancy is still a leading cause of maternal death although its mortality is reduced significantly with improved early diagnosis and treatment. Intraligamentous pregnancy, a subset of ectopic pregnancy, is one of the most unusual accident so that the diagnosis of intraligamentous pregnancy is hardly ever made prior to laparotomy. We experienced intraligamentous pregnancy with hemoperitoneum. So we presented a case with brief review of literature.
Diagnosis ; Early Diagnosis ; Female ; Hemoperitoneum ; Hemorrhage* ; Incidence ; Laparotomy ; Maternal Death ; Mortality ; Pregnancy* ; Pregnancy, Ectopic

The incidence of ectopic pregnancy has been increasing for many years and ectopic pregnancy is still a leading cause of maternal death although its mortality is reduced significantly with improved early diagnosis and treatment. Intraligamentous pregnancy, a subset of ectopic pregnancy, is one of the most unusual accident so that the diagnosis of intraligamentous pregnancy is hardly ever made prior to laparotomy. We experienced intraligamentous pregnancy with hemoperitoneum. So we presented a case with brief review of literature.
Diagnosis ; Early Diagnosis ; Female ; Hemoperitoneum ; Hemorrhage* ; Incidence ; Laparotomy ; Maternal Death ; Mortality ; Pregnancy* ; Pregnancy, Ectopic

No abstract available.
Amniotic Fluid* ; Female ; Pregnancy*