Tubulinopathy commonly refers to complex congenital and non-progressive brain malformations caused by mutations in the tubulin genes. Among tubulin-encoding genes, TUBB3 has rarely been reported as a cause of complex cortical malformations. Herein, we report a case of tubulinopathy in a 21-month-old boy who presented with delayed development. He could not walk on his own and was not able to speak more than five words. Physical examination revealed right esotropia and hypotonia of the lower extremities. MRI showed dysmorphic brainstem and dysmorphic and hypertrophic basal ganglia. The right thalamus was relatively smaller than the left one. The cerebellum showed disorganization of the cerebellar folia. DNA sequencing revealed a missense mutation of the TUBB3 gene.

Chondrolipomas, which are lipomas with chondroid metaplasia, are rare benign soft tissue tumors with no relevant epidemiological reports or radiological information. A limited number of lipomas with osteo/chondroid differentiation have been reported in the literature between 1960 and 2008. Moreover, only few studies have described the radiologic findings of chondrolipomas. Herein, we present a case of chrondrolipoma arising from the left supraclavicular region in a 77-year-old female.

Chondrolipomas, which are lipomas with chondroid metaplasia, are rare benign soft tissue tumors with no relevant epidemiological reports or radiological information. A limited number of lipomas with osteo/chondroid differentiation have been reported in the literature between 1960 and 2008. Moreover, only few studies have described the radiologic findings of chondrolipomas. Herein, we present a case of chrondrolipoma arising from the left supraclavicular region in a 77-year-old female.

Intracranial lipoma usually occurs at or near the midline, predominantly in the callosal cistern and very rarely in the sylvian fissure. We report a case of lipoma of the sylvian fissure without association with other congenital anomaly or vascular abnormality.
Brain ; Lipoma*

Herlyn-Werner-Wunderlich syndrome(HWWs) is a rare variant of Mullerian ductal anomalies characterized by the presence of a hemivaginal septum, a didelphic uterus, and ipsilateral renal agenesis. It usually presents after menarche with progressive pelvic pain, and palpable mass due to hemihematocolpos. If a cystic mass is detected behind the urinary bladder in children, in association with the absence of a kidney, the diagnosis of uterus didelphys with imperforate vagina and hydrocolpos should be considered. When renal agenesis is found in asymptomatic children, the small size and the tubular shape of the uterus makes it almost impossible to evaluate uterine anomalies, so follow-up should be performed until the end of puberty. Appropriate preoperative diagnosis and treatment will prevent unnecessary procedures and offer relief of symptoms. We report one case of didelphic uterus with blind hemivagina and ipsilateral renal agenesis with biopsy-proven thin glomerular basement membrane disease which is not related to the above syndrome.
Adolescent ; Child ; Diagnosis ; Female ; Follow-Up Studies ; Glomerular Basement Membrane* ; Humans ; Hydrocolpos ; Kidney ; Menarche ; Pelvic Pain ; Puberty ; Unnecessary Procedures ; Urinary Bladder ; Uterus* ; Vagina

PURPOSE: To identify the characteristic ultrasonographic findings of the normal appendix in children in order to detect it more easily and so to exclude acute appendicitis from a diagnosis with more confidence. MATERIALS AND METHODS: Among 64 patients presenting with right lower quadrant pain, 44 patients, excluding 15 patients diagnosed as acute appendicitis and 5 patients with non-visualization of the appendix due to severe ileus and obesity, were evaluated for the point of incidence, the thickness and the presence of folding of the inner hypoechoic band of the normal appendix. The age of the patients ranged from 3 to 15 years with a mean age of 6.5 years. Two patients were operated on and we correlated the preoperative ultrasonographic findings with the histologic findings. RESULTS: In all the cases of the 44 patients with normal appendix, the inner hypoechoic band was discovered, which was seen as a linear structure without folding along the whole length of appendix. This measured as 0.75 mm (0.3-1.5 mm) for the mean thickness. The inner hypoechoic band corresponded to the mucosal layer that had abundant lymphoid tissue on the histologic examination. CONCLUSION:For the pediatric normal appendix, the inner hypoechoic band without folding is present, and this corresponds to the mucosal layer with abundant lymphoid tissue.
Appendicitis ; Appendix* ; Child* ; Diagnosis ; Humans ; Ileus ; Incidence ; Lymphoid Tissue ; Obesity ; Ultrasonography*

HHE syndrome is characterized by hemiconvulsive seizure, hemiplegia and epilepsy occurring in sequence. Recently, cytotoxic edematous swelling of one hemisphere was presented as the pathogenesis because high signal intensity was shown in the diffusion image but no remarkable findings were noticed in the FLAIR image and T2WI in two cases presented by Freeman etc. The clinical course and the radiologic findings in our patient was the same as the above description other than sparing paracentral lobule. This reinforces the assumption that the brain damage in HHE syndrome is not induced by vascular hypoxic damage but by selectively cytotoxic damage through immunologic pathogenesis. Therefore, diffusion image is needed for the diagnosis of HHE syndrome in a febrile convulsive child. Also, early adequate treatment is required such as immunosuppressive treatment with high dose steroid and intravenous immunoglobulin. Furthermore, a proper measure to reduce cerebral edema is essential for the prevention of neurologic sequalae and deterioration to epilepsy.
Brain ; Brain Edema ; Child ; Diffusion ; Epilepsy ; Follow-Up Studies ; Hemiplegia ; Humans ; Immunoglobulins ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Seizures

Cerebral air embolism is a rare, potentially catastrophic iatrogenic complication of central venous catheter removal. Cerebral air embolism can lead to serious neurological sequelae, resulting from cerebral infarction. Early radiological diagnosis of cerebral air embolism is critical for emergent hyperbaric oxygen treatment. In this study, we report the case of a 68-year-old man who developed cerebral air embolism after the removal of a central venous catheter that was immediately diagnosed using brain CT and brain diffusion-weighted imaging.

Coronary artery aneurysm is a rare disease. It occurs in the epicardial space, mostly along the course of major coronary arteries. Here, we report a case of a giant incidental aneurysm embedded in the basal posterior wall of the left ventricle. A 43-year-old woman was referred to our institution for the evaluation of cardiac palpitations that had been present from the previous 2 months. She reported no medical history (such as Kawasaki's disease or hypertension) or previous operative history. Echocardiogram and subsequent cardiac CT revealed a giant aneurysm in the left ventricle, with a direct fistulous connection to a dilated and tortuous left circumflex artery, which showed direct communication with the straight right coronary artery.

Chlorfenapyr is widely used as an insecticide, despite it being fatal to humans. However, chlorfenapyr- induced central nervous system toxicity has rarely been reported. We report the magnetic resonance imaging (MRI) findings in a rare case of chlorfenapyr-induced toxic leukoencephalopathy. A 71-year-old man who had ingested chlorfenapyr approximately two weeks prior visited our hospital and presented with bilateral lower motor weakness and voiding dysfunction that had developed two days before admission. Brain MRI revealed extensive bilateral white matter abnormalities involving the corpus callosum, internal capsule, brain stem, and bilateral middle cerebellar peduncle. Furthermore, spine MRI revealed diffuse swelling and hyperintensity on the T2-weighted images.