Alexander disease is an uncommon autosomal dominant leukodystrophy that influences the white matter of the central nervous system (CNS), predominantly affecting the frontal lobe bilaterally. The most obvious pathogenic hallmark is the extensive deposition of cytoplasmic inclusions known as "Rosenthal fibers" in perivascular, subpial, and subependymal astrocytes throughout the CNS. The hereditary cause is mutations in the glial fibrillary acidic protein (GFAP) gene. Infantile, adult, and juvenile onsets are the three subtypes. Psychomotor retardation, mile-stone regression, spastic paresis, brain stem symptoms (swallowing, speech, etc.), and seizures define the juvenile variety, which emerges between the ages of three and 10 years. Macrocephaly has a lower likelihood of being a juvenile type. It is generally diagnosed based on clinical and magnetic resonance imaging findings. A five-year-old girl is presented as a case of juvenile Alexander disease, with typical clinical and MRI features.
Banti’s syndrome is a chronic congestive enlargement of the spleen leading to the destruction of blood cells resulting in pancytopenia. It is also associated with cirrhosis and ascites along with symptoms of pancytopenia such as infection, bruising, weakness, and fatigue. Multiple factors such as hepatitis B infection, coagulation abnormalities and exposure to arsenic, etc. may also cause Banti’s syndrome. Clinical evaluation with blood profile along with use of imaging studies such as MRI and splenic venography is utilized for the determination of Banti’s syndrome. In this report, we present a 29-year-old diabetic male who presented with abdominal distention, right leg cellulitis, fever, and a past history of hematemesis and melena. On examination, distended abdomen showed marked splenomegaly with ascites (positive shifting dullness and fluid thrill). Also, the left leg was warm, swollen, and tender to the touch. Complete blood count showed decreased WBC, RBC, Hb, with peripheral smear negative for malarial parasites. Ultrasound scan of abdomen and pelvis was done illustrating massive splenomegaly with pelvic dilation and ascites.
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