Acute Necrotizing Encephalopathy

What is Acute Necrotizing Encephalopathy?

Acute Necrotizing Encephalopathy is a rare disease. It is also known as ADANE.

This is mostly a non-genetic condition typified by rapid depression of consciousness, seizures and neurological deficit, following a febrile illness. Death occurs in some (25%) and full recovery in 60% (data from Neilson et al., 2003). These authors reported a large family (11 affected members were studied) with an age of onset in the first few years of life with this condition. The commonest findings were gait abnormalities, seizures, speech and mental retardation, mood disorder, hypertonus. MRI showed symmetric T2-weighted hyperintensities in the lateral centrosylvian and insular cortex, internal capsule, medial temporal lobes, pons, thalami, and mid-portion of the basal ganglia. At PM, brown discolouration was noted in these areas. There were similarities to Leigh's disease and a mild structural mitochondrial abnormality (loose coupling) was found, but the authors considered their family to be different. The Neilson et al., (2003) family has now been mapped to 2q12-2q13 (Neilson et al., 2004) and mutations found in the gene RANBP2 (the nuclear pore protein Ran Binding Protein 2) not only in this family but in many others (Nielson et al., 2009).
Two sibs reported by Prasun and Stockton (2012) developed an acute encephalopathy 5 years apart. No mutations in RANBP2 were found. There were subtle hyperintensities in the basal ganglia and mitochodrial disease or inborn errors of metabolism could not be totally ruled out. Note too, the 3 brothers reported by Marco et al., (2012).

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* This information is courtesy of the L M D.

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What gene changes cause Acute Necrotizing Encephalopathy?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

The syndrome can be caused by mutations in the following gene/s location/s:

What are the main symptoms of Acute Necrotizing Encephalopathy?

The typical symptoms of the syndrome are:

How does someone get tested for Acute Necrotizing Encephalopathy?

The initial testing for Acute Necrotizing Encephalopathy can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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