Diagnosis
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| PEHO syndrome | |
|---|---|
| Other names | Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy |
| Usual onset | Infancy, Neonatal |
| Diagnostic method | Mainly clinical, MRI |
| Differential diagnosis | Aicardi syndrome, mevalonic aciduria, CDG syndromes, autosomal recessive cerebellar hypoplasia, Joubert syndrome, olivo-pontine cerebellar atrophies |
| Treatment | Supportive care |
| Prognosis | Very poor; most die before age 15 |
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) is an autosomal recessive and dominant, progressive neurodegenerative disorder that starts in the first few weeks or months of life. Early symptoms include infantile spasms, hyparrhythmia, and seizures, and optic atrophy. Other features include arrest of global developmental delay, severe intellectual deficit, encephalopathy, tapered fingers, and facial dysmorphism. [1]
There is no specific treatment for PEHO syndrome; only the symptoms associated with the syndrome can be managed. PEHO syndrome affects the Finnish population with an estimate of 1 in 78,000; cases have been described in non-Finnish persons and from other countries. [2] [3] [4]
The cause of the Finnish-type PEHO syndrome is homozygous pathogenic variants in the ZNHIT3 gene. Variants affecting the motor domain of KIF1A has also been suggested to cause full or partial phenotype of PEHO in others. There has been other pathogenic variants in other genes known to be associated with the syndrome. [5] [6] [7]
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There is no cure for PEHO syndrome. Some symptoms can be managed, but otherwise treatment is supportive care.[ citation needed ]
Wolfram syndrome, also called DIDMOAD, is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. Symptoms can start to appear as early as childhood to adult years. There is a 25% recurrence risk in children.
Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, always fatal neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world. It is, however, classified with the transmissible spongiform encephalopathies (TSE) due to the causative role played by PRNP, the human prion protein. GSS was first reported by the Austrian physicians Josef Gerstmann, Ernst Sträussler and Ilya Scheinker in 1936.
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay.
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the family of mitochondrial diseases, which also include MIDD, MERRF syndrome, and Leber's hereditary optic neuropathy. It was first characterized under this name in 1984. A feature of these diseases is that they are caused by defects in the mitochondrial genome which is inherited purely from the female parent. The most common MELAS mutation is mitochondrial mutation, mtDNA, referred to as m.3243A>G.
Dominant optic atrophy (DOA), or autosomal dominant optic atrophy (ADOA), (Kjer's type) is an autosomally inherited disease that affects the optic nerves, causing reduced visual acuity and blindness beginning in childhood. However, the disease can seem to re-present a second time with further vision loss due to the early onset of presbyopia symptoms (i.e., difficulty in viewing objects up close). DOA is characterized as affecting neurons called retinal ganglion cells (RGCs). This condition is due to mitochondrial dysfunction mediating the death of optic nerve fibers. The RGCs axons form the optic nerve. Therefore, the disease can be considered of the central nervous system. Dominant optic atrophy was first described clinically by Batten in 1896 and named Kjer’s optic neuropathy in 1959 after Danish ophthalmologist Poul Kjer, who studied 19 families with the disease. Although dominant optic atrophy is the most common autosomally inherited optic neuropathy (i.e., disease of the optic nerves), it is often misdiagnosed.
Hypsarrhythmia is very chaotic and disorganized brain electrical activity with no recognizable pattern, whereas a normal brain electrical activity shows clear separation between each signal and visible pattern. It is an abnormal interictal pattern, consisting of high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity seen on electroencephalogram (EEG), and frequently encountered in infants diagnosed with infantile spasms, although it can be found in other conditions such as tuberous sclerosis.
Costeff syndrome, or 3-methylglutaconic aciduria type III, is a genetic disorder caused by mutations in the OPA3 gene. It is typically associated with the onset of visual deterioration in early childhood followed by the development of movement problems and motor disability in later childhood, occasionally along with mild cases of cognitive deficiency. The disorder is named after Hanan Costeff, the doctor who first described the syndrome in 1989.
Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).
Wolframin is a protein that in humans is encoded by the WFS1 gene.
Mitochondrially encoded tRNA tryptophan also known as MT-TW is a transfer RNA which in humans is encoded by the mitochondrial MT-TW gene.
A Finnish heritage disease is any genetic disease or disorder that is significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Northern Sweden (Meänmaa) and Northwest Russia. There are 36 rare diseases regarded as Finnish heritage diseases. The diseases are not restricted to Finns; they are genetic diseases with far wider distribution in the world, but due to founder effects and genetic isolation they are more common in Finns.
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) – also known as mental retardation, X-linked, syndromic, Najm type (MRXSNA); X-linked intellectual deficit, Najm type; intellectual developmental disorder, X-linked, syndromic, Najm type; X-linked intellectual disability–microcephaly–pontocerebellar hypoplasia syndrome; and by variations of these terms – is a rare X-linked dominant genetic disorder of infants characterised by intellectual disability and pontocerebellar hypoplasia. It usually affects females; many males die before birth or not long after.
Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities. The condition is degenerative.
Barakat-Perenthaler syndrome is a rare neurodevelopmental genetic disorder, presenting with a severe epileptic encephalopathy, developmental delay, Intellectual disability, progressive microcephaly and visual disturbance. It is listed by the standard reference, Online Mendelian Inheritance in Man (OMIM) as #618744. and classified as EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83; EIEE83. It was first described in 2019 by Dr. Stefan Barakat and his team at the Erasmus University Medical Center in Rotterdam in the journal Acta Neuropathologica; the most recent reviews were published in Epilepsy Currents. and Trends in Endocrinology and Metabolism
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a rare progressive genetic disorder that primarily affects the nervous system and is characterized by sensorineural hearing loss, narcolepsy with cataplexy, and dementia later in life. People with this disorder usually start showing symptoms when they are in their early-mid adulthoods. It is a type of autosomal dominant cerebellar ataxia.
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.
CAPOS syndrome is a rare genetic neurological disorder which is characterized by abnormalities of the feet, eyes and brain which affect their normal function. These symptoms occur episodically when a fever-related infection is present within the body. The name is an acronym for "cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss".
Wolfram-like syndrome is a rare autosomal dominant genetic disorder that shares some of the features shown by those affected with the autosomal recessive Wolfram syndrome. It is a type of WFS1-related disorder.
Salt and pepper developmental regression syndrome, also known as Amish infantile epileptic syndrome or GM3 deficiency syndrome, is a rare autosomal recessive progressive neurological disorder characterized by developmental delay, severe intellectual disability, seizures, and skin pigmentation irregularities. The clinical symptoms of this condition start manifesting soon after birth, during the newborn/neo-natal stage of life.
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is a rare autosomal recessive disease caused by mutations in the SLC1A4 gene encoding the ASCT1 protein. The ASCT1 protein is primarily found in astrocytes in the brain where its main role is to import L-serine, a non-essential amino acid.
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