MedGen

Hereditary diffuse leukoencephalopathy with spheroids-2 (HDLS2) is an autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Symptom onset is usually in adulthood, although earlier onset has been reported. Some patients have an acute encephalopathic course with severe neurologic decline resulting in early death, whereas other patients have a more protracted and chronic disease course. Neuropathologic examination shows a leukoencephalopathy with axonal spheroids and myelination defects (summary by Sundal et al., 2012). For a discussion of genetic heterogeneity of HDLS, see HDLS1 (221820). [from OMIM]

Developmental and epileptic encephalopathy-71 (DEE71) is characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth. Glutamine levels are significantly increased (z score 3.2-11.7). Three patients have been described (summary by Rumping et al., 2019). [from OMIM]

An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. [from HPO]