Genetic testing revealed a homozygous pathogenic CLN3 variant: CLN3 c.(460+1_4 61–1)_(677+1_678–1) del)), which is diagnostic of neuronal ceroid lipofuscinosis type 3.
Diagnosis: Juvenile Batten disease
Neuronal ceroid lipofuscinosis (Batten disease) is a group of rare childhood progressive degenerative neurometabolic disorders characterized by deposition of lipopigments in neurons and other cells, including lymphocytes.
Vacuoles are typically not seen in lymphocytes and their presence should raise concern for a metabolic disorder. Other histochemical stains and/or ultrastructural examination of the lymphocytes may provide further diagnostic information. Ultimately, a definitive diagnosis of these disorders usually needs enzymic analysis and/or molecular testing. As a simple, fast, and minimally invasive test, peripheral blood smear examination may aid in the diagnosis of patients with a history suggestive of a metabolic disorder.
Diagnosis: Juvenile Batten disease
Neuronal ceroid lipofuscinosis (Batten disease) is a group of rare childhood progressive degenerative neurometabolic disorders characterized by deposition of lipopigments in neurons and other cells, including lymphocytes.
Vacuoles are typically not seen in lymphocytes and their presence should raise concern for a metabolic disorder. Other histochemical stains and/or ultrastructural examination of the lymphocytes may provide further diagnostic information. Ultimately, a definitive diagnosis of these disorders usually needs enzymic analysis and/or molecular testing. As a simple, fast, and minimally invasive test, peripheral blood smear examination may aid in the diagnosis of patients with a history suggestive of a metabolic disorder.