Idiopathic pulmonary hemosiderosis and stroke secondary to protein C deficiency in a child with Down syndrome: a case report.

BACKGROUND: Patients with Down syndrome are at a higher risk of developing autoimmune disorders such as thyroiditis, diabetes, and celiac disease compared with the general population. Although some diseases are well known to be associated with Down syndrome, others such as idiopathic pulmonary hemosiderosis and ischemic stroke due to protein C deficiency remain rare. CASE PRESENTATION: We report a case of a 2.5-year-old Tunisian girl with Down syndrome and hypothyroiditis admitted with dyspnea, anemia, and hemiplegia. Chest X-ray showed diffuse alveolar infiltrates. Laboratory tests showed severe anemia with hemoglobin of 4.2 g/dl without hemolysis. A diagnosis of idiopathic pulmonary hemosiderosis was confirmed by bronchoalveolar lavage showing numerous hemosiderin-laden macrophages, with a Golde score of 285 confirming the diagnosis of pulmonary hemosiderosis. Concerning hemiplegia, computed tomography showed multiple cerebral hypodensities suggestive of cerebral stroke. The etiology of these lesions was related to protein C deficiency. CONCLUSION: Idiopathic pulmonary hemosiderosis remains a severe disease, which is rarely associated with Down syndrome. The management of this disease in Down syndrome patients is difficult, especially when associated with an ischemic stroke secondary to protein C deficiency.

Acute disseminated encephalomyelitis: A retrospective study of 20 children in a pediatrics department in Tunisia.

BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is an inflammatory demyelinating disorder of the central nervous system. Little information is available about the clinical and neuroradiological profile or the follow-up of this disease in Tunisian children. AIM: To determine the clinical, laboratory, and radiological features and the outcome of ADEM in children admitted to the pediatrics department of a university hospital in Tunisia. METHODS: All children ≤ 18 years old presenting with ADEM and admitted to the tertiary referral center for pediatrics at Sahloul University Hospital from January 2000 to December 2020 were included in the study. The diagnosis of ADEM was confirmed according to the international pediatric multiple sclerosis study group criteria. RESULTS: A total of 20 patients (13 girls and 7 boys) fulfilled the diagnostic criteria for ADEM. The mean age at diagnosis was 5.6 years. The clinical presentation included polyfocal neurological signs such as cranial hypertension (45%), seizures (35%), and motor weaknesses (55%). Pyramidal tract signs and cranial nerve palsies were noted in 55% of cases. Brain magnetic resonance imaging showed particular features, namely, a relapsing tumor-like form in one case, and optic neuritis and demyelinating lesions of the white matter in the brain and the spinal cord with gadolinium cerebral ring-like enhancement in another case. The treatment consisted of intravenous immunoglobulin in 16 cases (80%) and corticosteroid in 19 cases (95%). Plasmapheresis was used for one patient. Complete recovery was observed in 12 patients (60%); 19 patients (95%) had a monophasic course of the disease while only one patient developed multiphasic ADEM. CONCLUSIONS: ADEM remains a difficult diagnosis in children. Nevertheless, after prompt diagnosis and adequate treatment, most children with ADEM have a favorable outcome with restitutio ad integrum.

Valve-sparing aortic root and aortic arch replacement in a 5-year-old boy with Loeys-Dietz syndrome.

In this study, we describe the case of a 5-year-old boy who presumably presented with Loeys-Dietz syndrome. A huge aneurysm of the ascending aorta and the aortic arch extended beyond the left subclavian artery and was accompanied by a slight narrowing of the aortic isthmus.

Radiology department performance: case study of CT scan at Sahloul Hospital (Tunisia).

BACKGROUND: The privileged recourse to CT-scan prescription in our current medical practice engender massive request which can alter not only the stability of the operating budgets of the public hospitals but also the clinical and managerial performance of these medical-technical departments. AIM: To audit the quality of CT-scan delivery in radiology Department at University Hospital of Sahloul in 2013. METHODS: Five quality indicators for the CT scan delivery were measured, three of which refer to period of time: A (deposit), B (perform CT-Scan) and C (final report recovery), and two evaluating the conformity of the radiological documents of the CT scan (request form and radiological report) using two grids composed of 12 iso-weighted items (one point), and was found satisfactory beyond 10 points. RESULTS: A total of 1141 CT scan request forms were included in the study which 1 111 (97%) were from Sahloul hospital departments and particularly from urology (16,2 %). Filling of CT- scan application form was conform only in 25.6 % of cases. For outpatient clinics the means (±SD) of period of time (in days) were: A: 0.2± 1.8. B: 59± 24.6. C: 14±9.2. D: 69.9±30.3 and E: 70± 30.1 versus A: 0.2± 1.8; B: 4.4± 3.9; C: 4.7 ± 6.5; D: 7.9± 8.6 and E: 8± 8.8 for hospital departments. Final reports were satisfactory in 87% and 52% of cases respectively in outpatient clinics and emergency. CONCLUSION: The performance of the CT scan examination, at Sahloul University Hospital, was limited mainly by excessive times of its realization and unsatisfactory quality of the final reports, hence there is a need of a radiology information system.

Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review.

Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders. Gastrointestinal manifestations of NF-1 are seldom thought of in routine clinical practice and might thus be significantly under-recognised. Their heterogeneous spectrum ranges from localised microscopic proliferative lesions to grossly recognizable mass-forming neurofibromas, neuroendocrine and gastrointestinal stromal tumours (GIST). The aim of this study is discussing the imaging evaluation and characterisation of the abdomen lesions in patients with NF1. TEACHING POINTS: • Neurofibromatosis type (NF-1) is one of the most common single gene disorders. • Every organ system can be involved and intra-abdominal manifestations are underestimated. • The NF1 abdominal manifestations comprehend five categories of tumours. • Neurogenic tumours including with neurofibromas are the most common type. • Early diagnosis of abdominal manifestations of NF-1 based on imaging patterns is necessary for appropriate treatment to avoid serious organic complications related to tumour mass.

Duodenal adenocarcinoma presenting as a mass with aneurismal dilatation.

Duodenal adenocarcinoma is frequent. Aneurysmal dilatation of the small bowel is reported to be a lymphoma characteristic imaging finding. A 57-year-old male was found to have a duodenal adenocarcinoma with aneurismal dilatation on imaging which is an exceptional feature. On laparotomy, the wall thickening of the dilated duodenum extended to the first jejunal loop, with multiple mesenteric lymph nodes and ascites. Segmental palliative resection with gastro-entero-anastomosis was done. Histopathology revealed a moderately differentiated adenocarcinoma with neuro-endocrine differentiation foci. Wide areas of necrosis and vascular emboli were responsible for the radiological feature of the dilated duodenum with wall thickening.

Diffusion weighted MR imaging and proton MR spectroscopy findings of central neurocytoma with pathological correlation.

PURPOSE: Three cases of histopathologically confirmed central neurocytoma (CN) are presented, emphasizing diagnostic imaging issues: conventional magnetic resonance imaging with Proton magnetic resonance spectroscopy (MRS) and diffusion-weighted imaging (DWI) findings of CN. MATERIALS AND METHODS: Patients age ranged from 17 to 32 years, Imaging include a CT scan and MR examination with DWI and proton MRS on a 1.5-T system. DWI and subsequent apparent diffusion coefficient (ADC) were obtained in all. Single voxel MRS was performed prior to surgery using a point resolved spectroscopy sequence (PRESS) with short 35 ms and long echotime (TE) 144 ms, associated with a two-dimensional chemical Shift Imaging (2D-CSI) with 144 ms TE (one case). Histopathological examination included immunostaining with synaptophysin. RESULTS: With the long TE, a variable amount of glycine with markedly increased choline, very small to almost complete loss of N-acetylaspartate and creatine, and inverted triplet of alanine-lactate were observed in all three patients. Increased glutamate and glutamine complex (Glx) was also observed in all with short TE. DWI demonstrated variable low ADC which appeared well correlated with the tumor signal intensity and cell density: the most homogeneous and highly dense cellular tumor with increased nucleus to cytoplasm ratio demonstrated the lower ADC. Histological pattern was typical in two cases and demonstrated an oligodendroglioma-like pattern in one case. Positivity for synaptophysin confirmed the neuronal origin in all. CONCLUSION: The demonstration within an intraventricular tumor of both glycine and alanine on MRS along with high choline, bulky Glx and restricted diffusion appear diagnostic of CN.

[Imaging of renal hydatid cyst based on a series of 41 cases]. / Aspect en imagerie du kyste hydatique du rein. A propos de 41 cas.

OBJECTIVES: The authors present the various imaging features of renal hydatid cyst and define the place of the various imaging modalities. MATERIAL AND METHODS: This retrospective study was based on 41 cases of renal hydatid cyst treated between 1989 and 2003, including 19 men and 22 women with a mean age of 32 years. KUB x-ray was performed in every case, ultrasound was performed in 39 cases, computed tomography (CT) was performed in 13 cases and MRI was performed in 3 cases. RESULTS: The preoperative diagnosis of renal hydatid cyst was established in 39 cases (95%), based on ultrasound in 31 cases (75%), CT in 5 cases (12%) and MRI in 3 cases (7%). The diagnosis was confirmed histologically in 41 cases. CONCLUSION: The diagnosis of renal hydatid cyst is often simple in hydatid endemic countries and is based on a combination of KUB-ultrasound. CT constitutes the second-line examination, which should be reserved for complicated cysts. MRI is the modality of choice in the case of atypical forms ensuring the differential diagnosis with serous cyst and cystic renal cancer

Preoperative scintigraphic visualization of an orbital metastasis before identification of carcinoma in a nonfunctioning thyroid nodule.

Preoperative accumulation of Tc-99m pertechnetate and radioiodine in metastases of well-differentiated thyroid carcinoma is uncommon. The authors report the case of a 51-year-old woman with follicular thyroid carcinoma revealed by a right orbital metastasis. I-131 scintigraphy performed before thyroidectomy showed intense uptake in an orbital metastasis despite the presence of an intact thyroid gland.

Preoperative scintigraphic visualization of lymph nodes and pulmonary metastases from papillary thyroid carcinoma.

Preoperative accumulation of Tc-99m pertechnetate and radioiodine in metastases of well-differentiated thyroid carcinoma is uncommon. We report herein the case of a 39-year-old woman with occult papillary thyroid cancer revealed by widespread miliary lung metastases. Ultrasonography revealed the presence of an infracentimetric hypoechoic nodule and cervical lymph nodes. Scintigraphy, realized with Tc-99m pertechnetate and I-131 prior to thyroidectomy, failed to delineate the primary thyroid tumor, but revealed functional cervical nodes on the central and left lateral compartments, with pulmonary accumulation.

Large diaphragmatic defect as the cause of hydrothorax in a cirrhotic patient: demonstration with peritoneal scintigraphy and magnetic resonance imaging.

A 52-year-old man with history of post-hepatitic cirrhosis presented with ascitis and respiratory distress. Chest X-ray on admission showed a large right hydrothorax. Thoracentesis yielded a large volume of a clear transudate fluid. Peritoneal scintigraphy showed rapid migration of radiotracer into the right pleural cavity, confirming the abdominal origin of the pleural fluid and suspecting a large diaphragmatic defect. MR imaging study using ultrafast sequences confirmed the large diaphragmatic defect.

Hypothyroidism presenting as a hot pertechnetate nodule.

The authors report an uncommon finding of hot nodule on Tc-99m sodium pertechnetate thyroid scan in three patients with hypothyroidism. Data indicate that hypothyroidism is secondary to Hashimoto's disease (HD). There was a concordant aspect on I-131 scan in two; a nodular discrepancy (cold nodule with I-131) was associated with the highest microsomal antibodies titer. The findings of thyroid scan and ultrasonographic findings indicate that hot nodules may be observed either on initial or advanced stages of HD. Color flow Doppler sonography, showed an absence of internal increase of vascularization. These data suggest that the observed hot nodules correspond to localized hyperplasia of the less diseased portions secondary to chronic stimulation by TSH.