BackgroundTo analyze the findings of cranial ultrasonographic screening in asymptomatic neonates and to assess association between abnormal results neurodevelopment.MethodsWe retrospectively reviewed healthy born 35 42 weeks gestation at our hospital from October 2011 2018.ResultsIn total, 11,681 underwent during study period, 9666 (82.7%) had normal results. Of 2015 with findings, 294 more tha...

Case Report A 21-month-old girl with cri-du-chat syndrome in conjunction with developmental delay underwent brain magnetic resonance imaging (MRI). The MRI showed hypoplasia of the brain stem, a normal cerebellum, thinning of the corpus callosum, and a lack of myelination in both anterior limbs of the internal capsule. She also had neonatal bilateral subependymal cysts. We believe that the symm...

Lymphangioleiomyomatosis (LAM) is an orphan cystic lung disease which can occur sporadically or in association with tuberous sclerosis complex (TSC). We report a 26-year-old woman diagnosed forme fruste of LAM, who presented bilateral pneumothoraces requiring both surgical and medical pleurodesis. Clinical examination investigations revealed hepatic renal angiomyolipomas, left retinal hamartoma...

This is a case of four-month-old female infant who presented with clinical manifestations congenital rubella syndrome (CRS) — bilateral cataracts, poorly-dilating pupils, microcorneas, salt and pepper retinopathies seen after cataract extractions, sensorineural hearing loss, patent ductus arteriosus, microcephaly, history blueberry spots low birth weight, positive serum IgM IgG tests for rubell...

OBJECTIVE To analyze imaging studies of 25 cases of agenesis of the corpus callosum with interhemispheric cyst to assess this malformation itself and associated anomalies. METHODS CT (6 patients) and MRI (19 patients) were retrospectively reviewed. The patients were categorized according to morphologic and clinical characteristics. RESULTS Based on morphology, the patients were separated in...

BACKGROUND Tuberous sclerosis complex is an autosomal dominant disorder predisposing to the development of benign lesions in different body organs, mainly in the brain, kidney, liver, skin, heart, and lung. Subependymal giant cell astrocytomas are characteristic brain tumors that occur in 10% to 20% of tuberous sclerosis complex patients and are almost exclusively related to tuberous sclerosis ...

BACKGROUND Screening cranial ultrasound led to the discovery of isolated frontal horn cysts quite distinct from periventricular leucomalacia cysts. AIM To clarify their significance, incidence, characteristics, causal factors or aetiology, and effect on long term outcome. DESIGN A retrospective observational study of all first cranial ultrasound scans (total of 2914) performed during the pe...

Background Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) an extremely rare autosomal recessive metabolic disease and divided into three types. Type B PCD clinically featured by lactic acidosis, hyperammonemia, hypercitrullinemia, hypotonia, abnormal movement, seizures. Case presentation Here, we report the first case of type in China, presenting with intract...