U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Seizures, early-onset, with neurodegeneration and brain calcifications(SENEBAC)

MedGen UID:
1713658
Concept ID:
C5394359
Disease or Syndrome
Synonyms: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC
 
Gene (location): NRROS (3q29)
 
Monarch Initiative: MONDO:0030033
OMIM®: 618875

Definition

Early-onset seizures with neurodegeneration and brain calcifications (SENEBAC) is an autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals tend to have normal or mildly delayed development early in life, but show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Most require tube feeding; death in childhood may occur. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcifications, suggestive of abnormal neuroinflammation (summary by Smith et al., 2020 and Dong et al., 2020). [from OMIM]

Clinical features

From HPO
Periventricular leukomalacia
MedGen UID:
6072
Concept ID:
C0023529
Disease or Syndrome
Periventricular leukomalacia is characterized by diffuse injury of deep cerebral white matter, accompanied in its most severe form by focal necrosis. The neuropathologic hallmarks of PVL are microglial activation and focal and diffuse periventricular depletion of premyelinating oligodendroglia.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Appendicular hypotonia
MedGen UID:
868520
Concept ID:
C4022919
Finding
Muscular hypotonia of one or more limbs.

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...