PEHO syndrome

PEHO syndrome, also known as Progressive Encephalopathy with Edema, Hysarrhythmia, and Optic Atrophy, is a rare neurodegenerative disorder that affects infants and young children.

Key Features:

• Progressive Encephalopathy: A condition where the brain's function deteriorates over time, leading to various symptoms.
• Edema: Swelling of the brain due to fluid accumulation.
• Hypsarrhythmia: A type of abnormal brain wave pattern that can be detected through electroencephalography (EEG).
• Optic Atrophy: Degeneration of the optic nerves, leading to vision loss.

Other Symptoms:

• Infantile spasms
• Severe hypotonia (low muscle tone)
• Profoundly delayed psychomotor development
• Progressive atrophy of the cerebellum and brainstem
• Dysmyelination (abnormal formation of myelin, a fatty substance surrounding nerve fibers)

Causes:

PEHO syndrome is caused by genetic mutations, which can be inherited or occur randomly. The exact cause remains unknown.

Incidence:

The minimum incidence of PEHO syndrome in the Finnish population is estimated to be 1 in 74,000.

These features and symptoms are based on information from sources [2], [4], [6], [10], and [12].

PEHO (Progressive encephalopathy with Edema, Hysarrhythmia, and Optic atrophy) syndrome is a rare neurodegenerative disorder that affects infants and young children. The clinical signs and symptoms of PEHO syndrome are quite distinctive and can be summarized as follows:

• Muscle weakness and floppiness: Infants with PEHO syndrome may become increasingly floppy (hypotonia) and lose control of their muscles [2].
• Subcutaneous edema: Edema, or swelling, is a common feature of PEHO syndrome, affecting the face, limbs, and other parts of the body [3, 8].
• Visual impairment: Blindness or severe visual impairment is a typical sign of PEHO syndrome [4].
• Severe hypotonia: Muscle weakness and floppiness are characteristic features of PEHO syndrome [4, 6].
• Early brain atrophy: Early brain atrophy, starting in the cerebellum, is a distinguishing feature of PEHO syndrome [4].
• Abnormal palate morphology: Abnormalities in the shape and structure of the palate are also associated with PEHO syndrome [5].
• Convulsions and hypsarrhythmia: Convulsions and abnormal brain wave patterns (hypsarrhythmia) can occur in infants with PEHO syndrome [6].

These signs and symptoms typically appear early in life, often within the first few months or years. It's essential to note that each child may exhibit a unique combination of these features, making diagnosis and management challenging.

References: [1] Not applicable (search results did not provide relevant information) [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome diagnosis involves several key tests.

• Molecular genetic testing is a crucial diagnostic tool for PEHO syndrome. This test helps identify the underlying genetic cause of the condition.
• Clinical diagnostic criteria, which include early-onset severe hypotonia (low muscle tone), seizures, and infantile spasms, are also used to diagnose PEHO syndrome [1].
• Neuroradiological studies have shown characteristic severe cerebellar atrophy, which is a key diagnostic feature of the condition. These studies can help confirm the diagnosis and rule out other conditions [6][3].
• Biochemical diagnostic tests, such as those mentioned in a 2020 study by H Sabaie, may also be used to diagnose PEHO syndrome [4].

It's worth noting that a definitive diagnosis of PEHO syndrome often requires a combination of these tests. A healthcare professional will use the results of these tests to determine the best course of action for an individual with suspected PEHO syndrome.

References: [1] Context result 1 [3] Context result 6 [4] Context result 4

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder, and its treatment is primarily symptomatic.

Treatment Options:

• Antiepileptic medications are commonly used to manage seizures associated with PEHO syndrome [1][2]. However, the effectiveness of these medications can vary from person to person.
• Adrenocorticotropic hormone (ACTH) therapy has also been tried in some cases, but its efficacy is limited and often short-lived [3].
• Levetiracetam, a new anti-epileptic drug, may be considered as an adjunctive treatment option, although it is not currently licensed for use in children [4].

Treatment Goals:

The primary goal of treatment in PEHO syndrome is to manage symptoms and improve quality of life. Unfortunately, the disease progression cannot be halted with current treatments.

• Managing seizures and other neurological symptoms can help alleviate some of the discomfort associated with the condition.
• Supportive care, such as physical therapy and occupational therapy, may also be beneficial in maintaining functional abilities [5].

New Therapies:

Researchers have proposed a new therapy that corrects the defects identified in PEHO syndrome. This treatment has been tested in rodent models and shows promise for future human trials [6]. However, more research is needed to confirm its efficacy.

It's essential to consult with a healthcare professional for personalized medical advice and treatment planning. They can help determine the best course of action based on individual circumstances.

References:

[1] Context 5 [2] Context 7 [3] Context 1 [4] Context 8 [5] Context 9 [6] Context 6

The differential diagnosis for PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome includes several conditions that present with similar clinical features.

• Aicardi syndrome: This is a rare X-linked genetic disorder characterized by the presence of infantile spasms, agenesis or dysgenesis of the corpus callosum, and ocular abnormalities [2].
• Mevalonic aciduria: This is a rare autosomal recessive metabolic disorder that presents with features such as cataracts, psychomotor retardation, and seizures [4].
• CDG syndromes (Congenital Disorders of Glycosylation): These are a group of rare genetic disorders characterized by the presence of glycosylation defects in proteins. They can present with features such as developmental delay, seizures, and dysmorphic facial features [2].
• Autosomal recessive cerebellar hypoplasia: This is a rare genetic disorder that presents with features such as severe psychomotor retardation, ataxia, and cerebellar hypoplasia [3].

It's worth noting that the diagnosis of PEHO syndrome can be challenging due to its rarity and overlapping clinical features with other conditions. A thorough diagnostic workup, including imaging studies (such as MRI) and genetic testing, is often necessary to confirm the diagnosis.

References: [1] Not available in context [2] #2: Diagnostic method, Mainly clinical, MRI. Differential diagnosis, Aicardi syndrome, mevalonic aciduria, CDG syndromes, autosomal recessive cerebellar hypoplasia ... [3] by H Sabaie · 2020 · Cited by 6 — Highlights. • Cerebellar atrophy is the main clinical difference between PEHO and PEHO-Like patients. Optic atrophy and infantile spasms/hypsarrhythmia are not ... [4] by S D'Arrigo · 2005 · Cited by 15 — PEHO syndrome is a rare, apparently autosomal recessive condition in which characteristic dysmorphic features are associated with subcutaneous edema, visual ...