Brain Stem Hypoplasia Associated with Cri-du-Chat Syndrome

Cri-du-Chat syndrome, also called the 5p-syndrome, is a rare genetic abnormality, and only few cases have been reported on its brain MRI findings. We describe the magnetic resonance imaging findings of a 1-year-old girl with Cri-du-Chat syndrome who showed brain stem hypoplasia, particularly in the pons, with normal cerebellum and diffuse hypoplasia of the cerebral hemispheres. We suggest that Cri-du-Chat syndrome chould be suspected in children with brain stem hypoplasia, particularly for those with high-pitched cries.     

Therapeutic leukocytapheresis for improvement in respiratory function in a woman with hyperleukocytosis and mantle cell lymphoma with a circulating small lymphocyte phenotype

Mantle cell lymphoma is an aggressive malignant B‐cell disorder that often presents with a leukemic picture. Circulating lymphoma cell morphology may vary from small round mature‐appearing lymphocytes resembling the lymphocytes of chronic lymphocytic leukemia to large prolymphocytoid or blastoid cells. Rare reports of hyperleukocytosis with leukostasis, treated with leukocytapheresis, are described in patients with prolymphocytoid or blastoid morphology. We report an 88 year old woman with mantle cell lymphoma, hyperleukocytosis (WBC > 400 × 10³/µL) with severe respiratory compromise but without interstitial or alveolar infiltrates on radiograph or computerized tomography of the chest. She was afebrile and had no central nervous system signs. Circulating lymphoma cell morphology was predominantly of the small lymphocyte type. A two‐whole‐blood‐volume leukocytapheresis reduced her WBC from 465 to 221 × 10³/µL in 150 min. Her respiratory rate decreased from 28/min to 18/min and her arterial oxygen saturation (SpO₂) rose from 91% to 97% on 6 L/min of oxygen by nasal cannula. Severe breathlessness before the procedure abated completely by the end of the procedure. Respiratory compromise may occur in mantle cell lymphoma with hyperleukocytosis with a mature lymphoma cell phenotype, even without a clear picture of leukostasis. Although the ultimate survival of the patient depends on treatment with chemotherapy, leukocytapheresis for alleviation of symptoms may be warranted and should be considered. Respiratory status and response to leukocytapheresis should be documented with physiological measurements. J. Clin. Apheresis 31:398–402, 2016. © 2015 Wiley Periodicals, Inc.     

A case series of symptomatic intraluminal duodenal duplication cysts: presentation, endoscopic therapy, and long-term outcome (with video)

BACKGROUND: Duodenal duplication cysts are rare congenital anomalies. Symptomatic cases have classically been treated by surgical resection, which can be complex because of the close proximity of the cysts to the papilla. OBJECTIVE: To describe a series of 8 patients with symptomatic duodenal duplication cysts who were treated endoscopically, with a special focus on the long-term outcome. DESIGN: Retrospective case series. SETTING: Three tertiary-care European academic hospitals. PATIENTS: Eight patients, age 8 to 72 years, were treated endoscopically for symptomatic intraluminal duodenal duplication cysts between 1981 and 2006. Seven patients presented with acute pancreatitis, and one patient presented with jaundice. INTERVENTION: Endoscopic incision and marsupialization of the cysts was performed by using a variety of endoscopic tools (needle-knife and regular sphincterotomes, cystotomes, and polypectomy snares). MAIN OUTCOME MEASUREMENTS: Technical success of endoscopic intervention and long-term clinical recurrence of symptoms. RESULTS: No major complications occurred. All patients remained asymptomatic at a median follow-up of 7.3 years. LIMITATIONS: Retrospective study; the small number of patients. CONCLUSIONS: The endoscopic treatment of symptomatic intraluminal duodenal duplication cysts is a safe and effective technique, with excellent long-term results. It represents a minimally invasive alternative to surgical resection and might be considered the preferred therapeutic modality for these cases.