PHACES syndrome associated with carcinoid endobronchial tumor

PHACES syndrome consists of the constellation of manifestations including posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), hemangiomas of the face and scalp, arterial abnormalities, cardiac defects, eye anomalies and sternal defects. We present a case with a possible PHACES syndrome including sternal cleft and supraumbilical raphé, precordial skin tag, persistent left superior vena cava and subtle narrowing of the aorta with an endobronchial carcinoid tumor. All these anomalies were discovered on chest multi-detector CT. This is a unique case of PHACES syndrome associated with carcinoid tumor. Review of the literature revealed 3 cases of PHACES syndrome with glial tumor. The authors tried to find the relationship between PHACES syndrome and carcinoid tumors or gliomas, which all derive from the neural crest cells.     

Late Infantile Neuronal Ceroid Lipofuscinosis in a Tunisian Boy

The classical form of late infantile neuronal ceroid lipofuscinosis is a childhood hereditary neurodegenerative disease usually fatal in the first decade of life. We report a two-year-old Tunisian boy who presented this form of ceroid lipofuscinosis. A febrile seizure was the presenting symptom without psychomotor delay. Magnetic resonance imaging of the brain showed mild cerebellar atrophy. Fundus oculi showed bilateral posterior polar cataract, which is a new finding in the classical form of late infantile neuronal ceroid lipofuscinosis. A homozygous R208X mutation was identified in the NLC2 gene. On follow up, this patient presented with myoclonic epilepsy and regression of acquired milestones.     

Lidocaïne test for easier and less time consuming assessment of liver function in several hepatic injury models

Purpose

In this study, we developed an ex vivo functional assay to assess liver metabolic capacity adapted from the lidocaïne test in rats.

Methods

Animals used were subjected to different models of liver injury: hypothermic ischemia (H/I, n = 8), ischemia-reperfusion (I/R, n = 8) and CCl₄ induced liver cirrhosis (n = 11), and compared with sham operated rats (n = 5). Livers were then extracted and a fragment of whole tissue was incubated with lidocaïne for 15, 30, 60, 120, 240, 360, and 720 min at which both lidocaïne and its major metabolite monoethylglycinexylidide (MEGX) were measured by high performance liquid chromatography (HPLC). A histological study and biochemical assays (transaminase levels) were also performed to further evaluate and confirm our data.

Results

Pharmacokinetic profile of lidocaïne metabolism in sham-operated animals revealed that the maximum concentration of MEGX is achieved at 120 min. Both lidocaïne metabolism and MEGX formation levels were significantly altered in all three models of hepatic injury. The extent of hepatic damage was confirmed by increased levels of transaminase levels and alteration of hepatocyte’s structure with areas of necrosis.

Conclusion

Our method provides reliable and reproducible results using only a small portion of liver which allows for a fast and easy assessment of liver metabolic capacity. Moreover, our method presents an alternative to the in vivo technique and seems more feasible in a clinical setting.     

Unusual localization of chondrocalcinosis: The sternoclavicular joint: Case report and review of the literature

BackgroundChondrocalcinosis is a metabolic arthropathy rarely affecting the anterior chest wall (ACW).Aim of the workTo report here a case of a polyarticular chondrocalcinosis with an uncommon localization in the sternoclavicular joints (SCJs), revealed by computed tomography (CT).Case reportA 76-year old female presented to the Rheumatology outpatient clinic Kassab orthopedics institute with low back pain. The history goes back to 4 months prior to her presentation when she developed mechanical back pain that progressively worsened during the last month, becoming inflammatory with prolonged morning stiffness. She had no history of fever or weight loss and no symptoms in the cervical spine, shoulders, chest wall, hips or knees. Physical examination revealed limited range of motion of hips, cervical and lumbar spine and bilateral swelling of SCJs without tenderness on pressure or mobilization. Biochemical investigations showed normal levels of inflammatory markers, phosphorus and calcium. Conventional radiographs showed multiple areas of calcification in the intra-vertebral discs, joint space narrowing of sacroiliac (SI) and coxofemoral joints. Chest wall radiograph appeared normal. ACW and pelvic CT were done to further delineate the cause. It showed intra-cartilaginous bilateral calcifications of SCJs, sacroilliac, intervertebral discs, coxofemoral joints and pubic symphysis. The final diagnosis was polyarticular chondrocalcinosis. The patient received analgesics, non-steroidal anti-inflammatory drugs and had functional rehabilitation sessions. Conclusion: This case points to the rare localization of chondrocalcinosis in the SCJ and should be considered especially in an elderly female. Early recognition is necessary in order to initiate an appropriate and prompt treatment.