Beckwith-Wiedemann syndrome with multiple hepatic and cutaneous hemangiomas in a female patient of Albanian origin: Diagnostic and therapeutic considerations.

We describe a 2-month-old female infant with macroglossia, macrosomia, omphalocele, neonatal hypoglycemia, earlobe creases, low nasal bridge, midface retrusion, syndromic facies and multiple cutaneous and hepatic hemangiomas (HH). Genetic evaluation confirmed the diagnosis of Beckwith-Wiedemann Syndrome (BWS) with mosaic uniparental disomy 11 as the underlying genetic mechanism suggested by partial hypermethylation of H19/IGF2:IG-DMR and partial hypomethylation of KCNQ1OT1:TSS-DMR on chromosome 11p15.5. Pediatric endocrinology and cardiology assessments were normal. No malignant liver or renal tumors were detected during the follow-up period. Treatment with propranolol was started for the multiple HH, according to international recommendations. At 3-, 6-, and 9-month follow up, a gradual decrease in the size of the hemangiomas and AFP levels was observed, without side effects. This is the fifth case in the literature combining HH and BWS, and among these, the third case with this specific genetic defect suggesting a possible association between HH and BWS caused by 11 paternal uniparental disomy [upd(11)pat]. The case also highlights that if treatment is warranted, then oral propranolol can be used for the management of infantile HH in BWS patients similarly to non-BWS patients.

A treacherous case of primary non-Hodgkin lymphoma of the bone: appearances can be deceptive.

INTRODUCTION: Primary lymphoma of the bone constitutes an extremely rare but distinctive clinical entity, accounting for approximately 3% of all primary bone malignancies and less than 1% of all non-Hodgkin lymphomas. CASE PRESENTATION: We report a rare case of a male patient with an atypical clinical presentation of non-Hodgkin primary lymphoma of the bone, initially misdiagnosed as ankylosing spondylitis. To our knowledge, this is the first case in the literature in which magnetic resonance imaging was contra-indicated. The atypical radiological imaging of the tumor, despite its aggressiveness, rendered the diagnostic approach a challenging but strenuous process. CONCLUSION: Plain radiographs and even computerized tomography images of primary lymphoma of the bone may appear as normal, but other imaging modalities should be used including radionuclide scans, especially when imaging techniques of greater accuracy such as magnetic resonance imaging are contraindicated. A patient-centred approach with emphasis on the main symptoms is the key to the diagnostic challenge of revealing the extremely unusual cases of primary lymphoma of the bone.