Long surviving classical Menkes disease treated with weekly intravenous copper therapy.

Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper replacement therapy administered parenterally may modify the severity of MD and permitted survival into adolescence. Subcutaneous copper-histidine supplementation is the current choice of therapy, and long-term administration is not desirable because of the expected nephrotoxicity. We report here the case of a 29-year-old male with MD who tolerated long-term intravenous copper therapy initiated at 2 months. Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD. Although neurodevelopement is poor, no major event of central nervous system is observed, and he enjoys a good social life by interacting using gestures. Optimum management is unknown, and closed follow-up is mandatory for clarification of this phenotype.

Evaluation of coronary artery variations using dual-source coronary computed tomography angiography in neonates with transposition of the great arteries.

OBJECTIVE: The purpose of this study was to investigate whether the origins and courses of the coronary arteries could be better assessed using ECG-gated dual-source computed tomography (CT) than with echocardiography in neonates with transposition of the great arteries (TGA). METHODS: A total of 17 neonates within 14 days old who underwent both echocardiography and retrospective ECG-gated coronary CT angiography were retrospectively reviewed. The patients were sedated and intubated during CT examinations, and CT images were obtained with a breath-hold. CT images were reconstructed by multiple cardiac phases, and the coronary artery assessment was performed in the most static phase. Coronary anomalies were classified by Shaher's classification and validated by surgical findings. RESULTS: CT correctly classified 16 of 17 cases (Shaher type 1: 7, type 2: 4, type 9: 3, type 3: 1, type 4: 2), whereas echocardiography classified only 8 of 17 cases correctly. Dual-source CT had a significantly higher diagnostic ability than echocardiography (p = 0.0078). CONCLUSION: Dual-source coronary CT angiography has a higher diagnostic ability than echocardiography in the assessment of the origins and courses of the coronary arteries in neonates with TGA.

Huge multiple spinal extradural meningeal cysts in infancy.

BACKGROUND: Multiple spinal extradural meningeal cysts (SEMCs) are rare lesions. SEMCs communicate with the subarachnoid space through multiple dural defects and expand into the extradural space with progressive spinal cord compression. CASE PRESENTATION: We report a 5-month-old boy with hydronephrosis involving nine huge SEMCs that were distributed from the T1-L5 levels. Eight SEMCs, except for one small noncommunicating cyst, were exposed through laminoplastic laminotomy at the T10-L5 and T3-5 levels. Five transdural communications with dural defects were packed with a piece of autologous muscle and fibrin glue. Tenting sutures to lift up the dura to the vertebral arch were added to minimize the extradural dead space. Postoperatively, cord compression was relieved and hydronephrosis improved. CONCLUSION: In conclusion, packing of all dural defects and dural tenting sutures at a one-staged operation is useful in the surgical management of huge and multiple SEMCs in infancy.

Dynamic morphological changes of thrombosed lateral sinus pericranii revealed by serial magnetic resonance images.

BACKGROUND: Sinus pericranii (SP) is a rare venous anomaly involving an abnormal connection of the intracranial dural sinuses with the extracranial veins. Magnetic resonance (MR) imaging (MRI) with MR venography can detect the typically congested intra- and extracranial venous components of SP. CLINICAL PRESENTATION: We report a rare case of lateral SP associated with the superior sagittal sinus, which might had already developed almost total thrombosis of the SP at the first MRI. As this patient had not presented with classical manifestations of SP on clinical or neuroradiological findings, the initial diagnosis of SP was difficult. Repeated MRI revealed dynamic morphological changes associated with reperfusion of the thrombosed SP via the cortical vein. CONCLUSION: MR venography combined with gadolinium enhancement was useful for diagnosis of the SP with an extremely slow flow status.

Intraventricular hemorrhage possibly extending from an infratentorial subdural hematoma via a perforated suprapineal recessus in a full-term neonate.

BACKGROUND: Although intraventricular hemorrhage (IVH) is very rarely reported in full-term neonates, it may occur in children with perinatal trauma, asphyxia, and coagulation disorders, and may originate in the choroid plexus and residual subependymal germinal matrix layer. CASE DESCRIPTION: We present the case of a full-term baby with IVH. She had no perinatal problems or coagulation disorders. Sagittal views of neuroimages demonstrated that the IVH possibly extended from a subdural hemorrhage (SDH) in the infratentorial area via a perforated suprapineal recessus. This was barely visible on a conventional axial view of a computed tomographic scan. CONCLUSION: When the etiopathogenesis of IVH in a full-term baby with an uncomplicated delivery cannot be clearly defined, multi-directional and multi-modal neuroimaging may be useful.

Lateral lipomyelomeningocele of the hemicord with split cord malformation type I revealed by 3D heavily T2-weighted MR imaging.

BACKGROUND: Lipomyelomeningocele (LMMC) is defined by a low-lying tethered spinal cord protruding posteriorly from the spinal canal and terminating in a lipomatous mass in the subcutaneous meningeal sac. The coexistence of LMMC with split cord malformation (SCM) is rare. CLINICAL PRESENTATION: We report on a patient with laterally protruded LMMC arising from the hemicord of SCM type I. Direct coronal and axial views (instead of sagittal views) of 3D heavily T2-weighted MR imaging (3D-hT2WI) clearly demonstrated the topographical relationship between both of the hemicords, the bony septum, and nerve roots in the right subcutaneous meningeal sac. CONCLUSION: Combined use of axial and coronal images of 3D-hT2W is useful for visualization and surgery of such a complicated anomaly.

Venous anomaly analogous to vertical embryonic positioning of the straight sinus associated with atretic cephalocele at the suboccipital region.

BACKGROUND: The coexistence of venous anomalies, such as vertical embryonic positioning of the straight sinus (VEP of SS), has been reported in patients with atretic cephalocele (AC). VEP of SS has been exclusively encountered when the AC is found above the torcular. CLINICAL PRESENTATION: We report a patient with suboccipital AC associated with venous anomalies analogous to VEP of SS, consisted of the Galenic venous system which did not drain into the straight sinus in the tentorium, but into the falcine sinus instead. Differences with VEP of SS in our case had no anatomical relationship between the falcine sinus and the suboccipital AC and no large cerebrospinal fluid space around the falcine sinus. A detailed neuroradiological examination was helpful for detecting these minute anomalies.