[Common variable immunodeficiency disorders: Part 2. Updated clinical manifestations and therapeutic management]. / Les déficits immunitaires communs variables (DICV) : partie 2. Mise à jour clinique et thérapeutique.

Common variable immunodeficiency disorders (CVID) are the most common symptomatic primary antibody deficiency in adults with an estimated prevalence of 1/25,000. The most frequent clinical manifestations are upper respiratory tract infections (including pneumonia, bronchitis, and sinusitis) predominantly with Streptococcus pneumoniae or H. influenzae. However, CVID are complicated in 20 to 30 % of cases of non-infectious manifestations which have been well characterized in recent years. Several complications can be observed including autoimmune, lymphoproliferative, granulomatous or cancerous manifestations involving one or more organs. These complications, mostly antibody-mediated cytopenias, are correlated with a decrease in the number of circulating switched memory B cells. Replacement therapy with polyvalent gammaglobulins has greatly improved the prognosis of these patients but it remains poor in the presence of digestive complications (especially in the case of chronic enteropathy and/or porto-sinusoidal vascular disease), pulmonary complications (bronchiectasis and/or granulomatous lymphocytic interstitial lung disease) and when progression to lymphoma. Much progress is still to be made, in particular on the therapeutic management of non-infectious complications which should benefit in the future from targeted treatments based on knowledge of genetics and immunology.

Brain anomalies in maternally inherited diabetes and deafness syndrome.

Maternally inherited diabetes and deafness (MIDD) and myoencephalopathy, lactic acidosis, stroke-like episodes (MELAS) syndromes are characterized by the same A3243G mutation of mitochondrial DNA (mtDNA). Should there be a link between these two clinical entities, one could expect to observe minor signs of MELAS in MIDD patients. To examine this issue, extensive evaluations of brain function and imaging in patients with mitochondrial diabetes and in age-matched type 1 diabetic patients were conducted and compared. MIDD patients (nine A3243G, two T14709G) and nine age-matched type 1 diabetic patients (T1D) were submitted for evaluation of cognitive functions, brain magnetic resonance (MR) imaging, and 1H-MR spectroscopy. Three MIDD patients exhibited cerebellar ataxia. The MIDD group exhibited poorer performances in sustained attention, verbal memory working, and abstract reasoning procedures, in comparison with the T1D group. MR imaging showed cerebellar atrophy in seven out of ten MIDD patients (versus 3 mild/8 in T1D controls) and basal ganglia calcifications in one MIDD patient. No evidence of (sub)acute stroke was detected. White-matter anomalies were observed in both groups (50%). 1H-MR spectroscopy revealed a significant decrease of N-acetyl aspartate only in vermis in the MIDD group, suggesting functional defect and/or neuronal loss. Lactate was detected in cerebrospinal fluid (CSF) in two MIDD and one T1D patient. Typical manifestations of MELAS are rare in MIDD syndrome, suggesting two different clinical entities. However, cerebellum involvement as assessed by imaging and 1H-MR spectroscopy is shared by both phenotypes.

[Semantic dementia: reflexions of a French working group for diagnostic criteria and constitution of a patient cohort]. / Démence sémantique: réflexions d'un groupe de travail pour des critères de diagnostic en français et la constitution d'une cohorte de patients.

Semantic dementia (SD) is a syndrome of progressive loss of semantic knowledge for objects and people. International criteria propose that SD be included in the frontotemporal lobar degeneration syndromes, with progressive non-fluent aphasia and frontotemporal dementia (FTD). However, several related syndromes have been defined that clinically and conceptually share both similarities and differences with SD: fluent progressive aphasia, progressive prosopagnosia, temporal variant of FTD. In order to establish a French consensus for the diagnosis and modalities of evaluation and follow-up of SD, a working group, composed of neurologists, neuropsychologists and speech-therapists, was established by the Groupe de réflexion sur les évaluations cognitives (GRECO). New criteria were elaborated, based on clinical, neuropsychological, and imaging data. They define typical and atypical forms of SD. A diagnosis of typical SD relies on an isolated and progressive loss of semantic knowledge, attested by a deficit of word comprehension and a deficit of objects and/or people identification, with imaging showing temporal atrophy and/or hypometabolism. SD is atypical if the deficit of semantic knowledge is present only within a single modality (verbal versus visual), or if non-semantic deficits (mild and not present at onset) and/or neurological signs, are associated with the semantic loss.

Infantile myofibromatosis.

An unusual case of infantile myofibromatosis with foci of calcifications was presented, with atypical age of onset and location. The radiological features of this tumor are not always evocative, and histological examination is necessary for diagnosis.

[Arterial and biliary complications of hepatic transplantation]. / Complications artérielles et biliaires de la transplantation hépatique.

Despite progress in standardization of reconstruction procedures, arterial and biliary complications remain an important problem in liver transplantation. These complications directly affect graft survival and patient mortality. We review a series of 165 consecutive orthoptic liver transplantations performed in 146 patients including 3 children. Biliary reconstruction included bilio-biliary termino-terminal anastomosis in 88% of the cases and bilio-digestive choledoco-jejunal anastomosis in 12%. Biliary complications occurred in 15% (25/165) with more obstruction (64%, 16/25) than leakages (64%, 7/25); 28% (7/25) of these complications were related to biliary drainage (3 obstructions and 4 leakages). There were no arterial complications in the 7 patients with non-anastomotic biliary stenosis. The rate of arterial complications was 11%; with 8 stenoses, 5 thrombosis and 5 pseudoaneurysms. Among the 18 transplantations with an arterial complication, 7 (39%) also had a biliary complication. Among the 10 patients with a complete interruption of arterial blood flow (thrombosis or surgical ligature or a ruptured pseudo-aneurysm), 5 (50%) also had a biliary complication, 1 underwent early retransplantation and 2 died early. In conclusion, the biliary tree of the graft are particularly susceptible to interrupted arterial flow. Ischaemic biliary lesions predominate in the intra-hepatic biliary ducts. Biliary drainage is important.

[Malignant transformation of an intracranial epidermoid cyst]. / Transformation maligne d'un kyste épidermoïde intracranien.

We report the case of a 56-year-old man who underwent removal of an intracranial epidermoid cyst 16 years ago. The cyst recurred 12 years later and was once again almost completely removed. A new recurrence 4 years later proved to be due to malignant change in the form of squamous cell carcinoma. Only 17 other cases of malignant change in an intracranial epidermoid cyst have been reported. Moreover, three other cases presented as primary intracranial squamous carcinoma.