The Dilemma of Sex of Rearing: A Case of a 45,X/46,XY Neonate with Hydrocolpos.

BACKGROUND: A rare disorder of sex development is 45,X/46,XY mosaicism, which is phenotypically very heterogenous, ranging from normal male (or female) to that of genital ambiguity of varying degrees. CASE: We report a case of a neonate with 45,X/46,XY mosaicism and hydrocolpos, and we point out the dilemma and the difficulty in gender assignment. SUMMARY AND CONCLUSION: Gender assignment of cases with frank genital ambiguity is often difficult to be determined, because several factors have to be taken into consideration, such as genital appearance, anticipated urological and sexual function, capacity for future fertility, gonadal malignancy risk, and psychosocial factors. A multidisciplinary approach is definitely needed in the management of such cases.

Sonographic appearances of the epididymis in boys with acute testicular torsion but preserved testicular blood flow on color Doppler.

BACKGROUND: Little attention has been given to the sonographic appearances of the epididymis in testicular torsion. OBJECTIVE: To describe the position and morphology of the epididymis in childhood acute testicular torsion when testicular flow is present on color Doppler sonography. MATERIALS AND METHODS: We studied the sonographic findings in boys with clinically and surgically proven acute testicular torsion who were examined sonographically from May 2013 to May 2014 and who had preserved intratesticular flow on color Doppler sonography. We retrospectively evaluated the sonograms with emphasis on the epididymal findings. RESULTS: In all nine boys with confirmed torsion but with preserved intratesticular flow on color Doppler sonography, the epididymal head had an unexpected configuration and size, and no close relationship with the upper pole of the testis. In five of these children the spermatic cord appeared twisted on the affected side. In the remaining four boys the spermatic cord appeared straight. CONCLUSION: The position and morphology of the head of the epididymis were abnormal in all boys with acute testicular torsion but with preserved testicular flow.

Chronic recurrent multifocal osteomyelitis with concomitant features of juvenile idiopathic arthritis.

We report a case of a 13-year-old girl with chronic recurrent multifocal osteomyelitis (CRMO) who developed severe arthritis in four different joints within the first year from the onset of the disease. Her multiple vertebrae lesions showed significant amelioration after a 2-month treatment with prednisolone. In parallel, the initial severe symmetrical arthritis of both knees showing overt synovitis and joint effusion, in the absence of lesions in the metaphyses of the femur or the tibia, responded remarkably well in intra-articular triamcinolone hexacetonide injections. However, upon discontinuation of prednisolone, the patient developed severe arthritis of her right ankle and the proximal interphalangeal joint of her right middle finger. Thus, prednisolone was reinitiated combined with methotrexate, and the patient went into remission, which persists one year after prednisolone tapering. The appearance of arthritis in both knees in the absence of bone lesions and the emergence of severe arthritis of the ankle after remission of spinal bone lesions suggest that CRMO and juvenile idiopathic arthritis may coexist and be causally related.

Parasagittal lesions and ulegyria in hypoxic-ischemic encephalopathy: neuroimaging findings and review of the pathogenesis.

Hypoxic-ischemic brain injury is a very important neurological problem of the perinatal period and a major cause of chronic disability later in childhood. The subsequent neurological deficits are a variety of motor defects-especially spasticity but also choreoathetosis, dystonia and ataxia, often grouped together as "cerebral palsy," mental retardation, and seizures. The gestational age determines the neuropathology of the brain injury. One of the patterns of hypoxic-ischemic encephalopathy, typically affecting full-term infants, consists of parasagittal lesions and ulegyria. The aim of this study is to describe the magnetic resonance imaging (MRI) features and discuss the "suggested" pathogenetic mechanisms of this pattern, which affects the cortex and the white matter in a mainly parasagittal distribution; in this type of brain injury, the damage usually involves the deeper sulcal portion while sparing the apex, thus resulting in the so-called mushroom gyri characteristic ulegyric pattern. We discuss the MRI findings of parasagittal lesions and ulegyria in the brain examinations of 14 patients with a clinical history of perinatal hypoxia/anoxia presenting with mental retardation, seizures, and cerebral palsy. Differential diagnosis from polymicrogyria is discussed.