Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease.

Introduction: Pathogenic variants of the junctional adhesion molecule 3 (JAM3/JAM-C; OMIM#606871) is the cause of the rare recessive disorder called hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC, OMIM#613730) disease. A similar phenotype is universal, including congenital cataracts and brain hemorrhages with high mortality rate in the first few weeks of life and with a poor neurologic outcome in survivors. We aim to describe and enlighten novel phenotype and genotype of a new patient and review the literature regarding all reported patients worldwide. Case report: We report the case of a prenatal and postnatal phenotype of a new patient with a novel pathogenic loss-of-function variant in JAM3, who presented prenatally with cataracts and brain anomalies and postnatally with brain hemorrhages, failure to thrive (FTT), progressive microcephaly, recurrent posterior capsule opacities, and auditory neuropathy. Discussion: This study enlightens novel possible functions of JAM3 in the normal development of the brain, the ocular lenses, the auditory system, and possibly the gastrointestinal tract. This study is the first to report of cataracts evident in as early as 23 weeks of gestation and a rare phenomenon of recurrent posterior capsule opacities despite performing recurrent posterior capsulectomy and anterior vitrectomy. We suggest that auditory neuropathy, which is reported here for the first time, is part of the phenotype of HDBSCC, probably due to an endothelial microvasculature disruption of the peripheral eighth nerve or possibly due to impaired nerve conduction from the synapse to the brainstem. Conclusions: Prenatal cataracts, brain anomalies, FTT, and auditory neuropathy are part of the phenotype of the HDBSCC disease. We suggest including JAM3 in the gene list known to cause congenital cataracts, brain hemorrhages, and hearing loss. Further studies should address the auditory neuropathy and FTT phenomena in knockout mice models. We further suggest performing comprehensive ophthalmic, audiologic, and gastroenterologic evaluations for living patients worldwide to further confirm these novel phenomena in this rare entity.

Overcoming reduced hepatic and renal perfusion caused by positive-pressure pneumoperitoneum.

HYPOTHESIS: Use of the intermittent sequential pneumatic compression (ISPC) device may improve splanchnic and renal perfusion caused by positive-pressure pneumoperitoneum (PPP) in patients undergoing laparoscopic cholecystectomy. DESIGN: Prospective controlled study. SETTING: University hospital. PATIENTS: Twenty-two consecutive patients undergoing elective laparoscopic cholecystectomy whose cardiac output decreased at least 10% on induction of PPP. INTERVENTION: The ISPC device was activated over the lower limbs 15 minutes after PPP was established for the remainder of surgery. MAIN OUTCOME MEASURES: Urine output, cardiovascular functions, and hepatic and renal perfusion were measured during the surgical phases; urine output was quantified in a matched control group (n = 30). RESULTS: Induction of PPP significantly decreased cardiac output and stroke volume, while ISPC significantly reversed these changes. Increased systemic vascular resistance during PPP was reversed by ISPC. Activation of the pneumatic sleeves during PPP increased the mean +/- SD portal venous and hepatic arterial blood flows from 0.86 +/- 0.30 to 1.33 +/- 0.44 L/min (P<.001) and from 0.26 +/- 0.10 to 0.38 +/- 0.19 L/min (P = .002), respectively; the mean renal segmental arterial index decreased with ISPC from 0.68 +/- 0.05 to 0.63 +/- 0.08 (P = .003). During PPP, urine output decreased from 1.10 to 0.28 mL/min per meter squared (P = .001) but improved markedly with ISPC to 0.61 mL/min per meter squared (P = .01). Such improvement was absent in the control group. CONCLUSIONS: Use of ISPC significantly improves hepatic and renal blood flows during PPP. Its application is recommended during prolonged laparoscopic procedures, including laparoscopic live donor nephrectomy.

CT of the ear in Pendred syndrome.

PURPOSE: To prospectively determine the structural anomalies of the inner ear by using thin-section computed tomography (CT) in an extended family with Pendred syndrome. MATERIALS AND METHODS: Ethics committee approved the study, and informed consent was obtained from every patient or from parents of patients under legal age. Twelve patients (three females and nine males aged 7-47 years) with Pendred syndrome (all from the same ethnic isolate and with the same mutation in the PDS gene) were evaluated for inner-ear malformation at thin-section CT. Both ears were evaluated. Presence or absence of interscalar septum between upper and middle turns of the cochlea was evaluated, and vestibule and vestibular aqueduct were examined for enlargement. Modiolus was determined to be present or absent (modiolar deficiency). CT scans were evaluated in consensus by two radiologists (M.G., J.M.G.). RESULTS: All patients had inner ear malformation on both sides. Modiolus was absent and vestibule was enlarged on both sides in all 12 patients. Interscalar septum was absent in 18 (75%) of 24 ears. In eight patients, interscalar septum was absent in both ears, whereas in two patients, it was absent on only one side. Aqueduct was enlarged in 20 (80%) of 24 ears. In nine patients, both ears had enlarged aqueducts, while in two patients, only one side was abnormal. CONCLUSION: Inner ear malformation is an invariable finding in Pendred syndrome. Modiolus deficiency and vestibular enlargement were the most consistent anomalies in this population with Pendred syndrome.

A pitfall in triple contrast CT of penetrating trauma of the flank.

This brief report describes the case of a 20-year-old man who was stabbed in the left flank. He underwent triple contrast helical CT of the abdomen and pelvis that showed a hyperdense focus in the area of the stab wound. This structure was a chip fracture of pelvis, but was misinterpreted as contrast extravasation, and the patient underwent negative exploratory laparotomy.

Littoral cell angioma of the spleen: appearance on sonography and CT.

Littoral cell angioma (LCA) is a rare benign vascular tumor of the spleen with characteristic histomorphologic features. Only a few descriptions of the radiologic appearance of this tumor have been published, and those descriptions are variable. We report a case of LCA in a 37-year-old man with psoriasis and nonspecific symptoms of weakness, pain and fatigue, normocytic anemia, and thrombocytopenia. The results of abdominal sonography and contrast-enhanced CT correlated: the 2 modalities revealed hepatosplenomegaly and multiple round splenic lesions of similar appearance and size (on sonograms, ill-defined echogenic lesions up to 3.2 cm without acoustic enhancement; on CT scans, hypodense, nonenhancing lesions up to 3.5 cm). Because making a differential diagnosis was difficult and our presumptive diagnosis was hemangioma or lymphoma, splenectomy was performed. Postoperative pathologic examinations confirmed a final diagnosis of LCA. The patient's recovery was uneventful. LCA should be considered when making a differential diagnosis of splenic lesions, and sonography may be more helpful than CT in reaching a diagnosis of LCA.

Role of Doppler sonography in the diagnosis of cystic lymphangioma of the scrotum.

Cystic lymphangioma is a congenital lymphatic malformation that is a rare cause of extratesticular scrotal masses in children; it is frequently misdiagnosed preoperatively. Complete excision is curative, but recurrence may result from incomplete excision. We report a case of cystic lymphangioma of the scrotum in a 3-year-old boy, which had been previously diagnosed as a hydrocele. Gray-scale sonography showed a multicystic extratesticular lesion; color Doppler sonography further characterized the lesion by showing blood flow within the septa. CT scanning ruled out extrascrotal involvement. The cystic mass was surgically resected. The appearance of the lesion both macroscopically and microscopically was consistent with a diagnosis of cystic lymphangioma. The child recovered uneventfully and was discharged on the third day after surgery; no evidence of recurrence was found in 6 months of follow-up. In such cases of scrotal masses in children, gray-scale and color Doppler sonography, followed by CT or MRI, are useful in diagnosing cystic lymphangioma, differentiating it from other lesions, and defining its extent, thus allowing proper surgical planning.