OBJECTIVE Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS). METHODS We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy. RESULTS Both patients were confirmed to have transthyret...

Primary systemic amyloidosis is a rare entity. We report a case of primary systemic amyloidosis without any associated hematological abnormality who presented with macroglossia and hemorrhagic lesions around eyes and sub mammary region. There were soft lobulated masses around perianal region, labia majora and on external auditory meatus obstructing auditory canal. She was also operated for carp...

INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings. Therefore, the aim of this work to present different phenotypic features syndrome. CASE PRESENTATION: We reviewed two-month-old patient referred genetic unit at Rwanda military hospital, Kigali, Rwanda. Physical examinations indicated severe l...

In the evaluation of the beauty and functional integrity of the lower face, the oral cavity, teeth, mandible, maxilla, and the size and position of the tongue are important. The tongue locates forward and is larger than normal in prognathism, in which the jaw protrudes from the skull. It is not clear whether an enlarged tongue causes the open bite, protrusion or dental arch misalignment, or is ...

Beckwith-Wiedemann syndrome is the most common overgrowth malformation syndrome. The classical features include macrosomia, macroglossia, omphalocele and ear lobe anomalies. Among the associated adrenal anomalies, foetal cortical cytomegaly, outer cortical haemorrhage and unilateral benign cysts are well described. A term neonate was admitted with typical features of the syndrome. Radiological ...