Espina selar, una causa posible de pubertad precoz central / Sellar spine, a possible cause of central precocious puberty

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Effects of Sex, Age and Height on Symphysis-Ischial Spine Distance Measured on a Pelvic CT.

OBJECTIVE: To examine the influence of age, sex and height on the symphysis-ischial spine distance (SID) measured on pelvic Computed tomography (CT)images in subjects of reproductive age, and to determine the interobserver reproducibility. This measurement (SID) is of great importance because the use of intrapartum ultrasound is based on the assumption of a specific value (30 mm) of such a measurement. METHODS: This was a cross-sectional descriptive study in which SID was measured in subjects aged 20 to 44 years who had been scheduled for pelvic CT at our centre from January 2018 to May 2021 for different reasons. Radiographic measurements of the pelvis were obtained through the multiplanar reconstruction of the CT image. The images obtained from all of the participants were independently assessed by three senior radiologists, and the SID measurements made by each one were blinded from those of the remaining observers. Correlations between the SID and patient age, height and sex were analyzed by univariate and multivariate linear regression. RESULTS: The mean SID for 87 of the enrolled participants (45 women, 42 men) was 28.2 ± 6.25 mm. Among the observers, the mean difference in this distance was 1 to 2 mm, and was scarcely related to measurement size, with agreement being greater than 70%. The mean SID was significantly related to sex and height (SID = -24.9 - 6.51 × sex (0 or 1) + 0.34 × height (cm); p = 0.01; sex equals 1 for a man and 0 for a woman), such that it was a mean of 2.5 mm greater in women than men (29.50 mm vs. 26.99 mm). CONCLUSION: Measurements of SID on CT images show good interobserver reproducibility, and are related to sex and height.

Diastematomielia: ¿disrafismo «oculto»? / Diastematomyelia: «Hidden» spinal dysraphism?

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Periventricular nodular heterotopia and dystonia due to an ARFGEF2 mutation.

BACKGROUND: Heterotopias are a neuronal migration disorder caused by extrinsic factors or by genetic mutations. When the location is periventricular, the most frequent genetic cause is the mutation in the "filamin A2 gene", which is X-linked. New genes for periventricular nodular heterotopia with an autosomal inheritance pattern have been recently discovered. PATIENTS: We describe two siblings. The girl, who was prenatally diagnosed ventriculomegaly, had delayed development. At 6 months, she had no head control and variable muscle tone, alternating low axial tone with jerking movements. She became microcephalic. Magnetic resonance imaging at 12 months of age revealed enlarged lateral ventricles, periventricular nodular heterotopia, thin corpus callosum, a T2-hyperintensity of the putamen and the thalamus, and a loss of volume of lenticular nucleus. At 18 months, she developed sporadic myoclonic seizures that were well controlled with valproic acid. Her younger brother also developed progressive microcephaly and psychomotor delay by 6 months. He exhibited axial hypotonia with a prominent dystonic-athetoid component. Magnetic resonance imaging at 15 months of age revealed asymmetric ventriculomegaly plus diffuse nodules lining the temporal horns, a thin corpus callosum, and hyperintensity signal in putamens. He had no seizures. RESULTS: Because of the association of microcephaly, developmental delay with dystonic movements, the imaging results, and the probable autosomal recessive inheritance pattern, genetic analysis was requested. This detected a homozygous nonsense mutation in ARFGEF2 gene, at the DNA level c.388C>T in exon 4. CONCLUSIONS: The presence of dyskinetic movements in individuals with acquired microcephaly could be a manifestation of periventricular nodular heterotopia due to ARFGEF2 mutation.

Acute hemicerebellitis in children: case report and review of literature.

Acute hemicerebellitis in childhood is an extremely rare unilateral presentation of cerebellitis mimicking a tumour. Its aetiology is unknown, although an inflammatory or postinfectious origin is presumed. Its clinical outcome is generally good and a self-limited evolution, in the absence of specific treatment, is usually expected. MRI findings can be misunderstood leading to erroneous diagnosis and invasive treatments. Clinical improvement and regression of the pathological findings in serial MRI will help differentiate acute hemicerebellitis from a neoplastic process. Surgical procedures should be performed only in case of clinical deterioration. We present a case of pseudotumoral hemicerebellitis in an eight-year-old girl, presenting with severe headache. This paper provides a review on hemicerebellitis and highlights the clinical, diagnostic, therapeutic features and outcome of this entity.