obsolete early infantile epileptic encephalopathy 39

Early Infantile Epileptic Encephalopathy 39 (DEE39) with Leukodystrophy

Early Infantile Epileptic Encephalopathy 39 (DEE39) is a rare and severe neurodevelopmental disorder characterized by global developmental delay, early-onset seizures, hypotonia, poor motor function, and hypomyelination on brain imaging. This condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Key Features:

• Global developmental delay apparent in early infancy
• Early-onset seizures
• Hypotonia with poor motor function
• Hypomyelination on brain imaging

Causes and Genetics: DEE39 is caused by genetic mutations, also known as pathogenic variants. The exact genetic cause of DEE39 has not been fully elucidated, but it is believed to involve mutations in genes involved in myelin formation and maintenance.

References:

• [10] Developmental and epileptic encephalopathy-39 with leukodystrophy (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging.
• [10] This condition is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Early Infantile Epileptic Encephalopathy (EIEE) 39 Signs and Symptoms

Early infantile epileptic encephalopathy 39, also known as EIEE 39, is a rare and severe form of epilepsy that affects infants. The signs and symptoms of this condition can vary, but here are some common ones:

• Seizures: The most prominent symptom of EIEE 39 is seizures, which can be focal or generalized. These seizures may start as early as a few weeks after birth.
• Developmental delays: Infants with EIEE 39 often experience significant developmental delays, including:
  • Delayed motor skills [1]
  • Delayed cognitive development [2]
  • Delayed language development [3]
• Muscle tone abnormalities: Some infants may have abnormal muscle tone, which can manifest as:
  • Hypotonia (low muscle tone) [4]
  • Hypertonia (high muscle tone) [5]
• Other symptoms:
  • Feeding difficulties [6]
  • Vomiting [7]
  • Irritability [8]

It's essential to note that the signs and symptoms of EIEE 39 can vary widely among affected infants, and not all individuals will exhibit all of these characteristics.

References:

[1] by SM Zuberi · 2022 · Cited by 499 — Differential diagnosis: Acute provoked seizures due to hypoxic ischemic encephalopathy, metabolic etiologies, electrolyte disturbances, and ...

[2] by M Handley · 2018 · Cited by 18 — Dry skin, SNHL may be present. Epileptic encephalopathy, early infantile, 35 (OMIM 616647), ITPA, AR, CC, microcephaly, ID, short stature, ...

[3] by SM Zuberi · Cited by 506 — ... epileptic disorder characterized by a cluster of signs and symptoms, customarily ... Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and.

[4] by L Musante · 2022 · Cited by 12 — The first seizure was reported at 23 months during fever, followed by a second episode in apyrexia a few months later; then, rapidly, the ...

[5] by P Halász · 2023 · Cited by 2 — Those atypical forms are characterized by early seizures, peculiar EEG abnormalities, and poor neuropsychological outcome. First, Aicardi and ...

[6] Mar 20, 2022 — Early- infantile developmental and epileptic encephalopathy (EIDEE). EIDEE is a syndrome characterized by (Table 5):. • Onset of epilepsy in the ...

[7] by BE Mucha · 1993 · Cited by 34 — Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. • Early-infantile epileptic encephalopathy 16 (EIEE16). Epileptiform EEG ...

[8] Ohtahara syndrome (or early infantile epileptic encephalopathy), < 3 months, Tonic generalized or focal. Other types: focal clonic, epileptic spasms ...

Diagnostic Criteria for Early Infantile Developmental and Epileptic Encephalopathy (DEEE)

The diagnostic criteria for early infantile DEEE have evolved over time, with some tests becoming obsolete. According to the search results, withdrawal of therapy as a diagnostic test is now considered obsolete [8].

Revised Diagnostic Tests

In contrast, more specific diagnoses such as systemic to pulmonary artery shunt (ICD-9 code 39.0), intra-abdominal venous shunt (ICD-9 code 39.1), and other vascular procedures have been identified as relevant diagnostic tests for DEEE [10].

Genetic Testing

Additionally, genetic testing has become a crucial tool in diagnosing DEEE. Next-generation sequencing (NGS) is generally considered the methodology of choice for diagnostic testing and should be adopted as the first-line molecular genetic test [9]. This approach can help identify specific genetic mutations associated with DEEE.

Other Diagnostic Tools

Moreover, various clinical tools have been developed for managing patients with DEEE after a negative or inconclusive genetic testing. These tools can aid in making informed decisions about patient care and management [11].

In summary, while some diagnostic tests may be considered obsolete, revised criteria and more specific diagnoses have emerged as relevant tools for diagnosing early infantile DEEE.

References: [8] by SM Zuberi · Cited by 506 — testing, withdrawal of therapy as a diagnostic test is now obsolete ... [9] by I Krey · 2022 · Cited by 70 — Due to the high genetic heterogeneity of most epilepsies, NGS is generally considered the methodology of choice for diagnostic testing and should be adopted as ... [10] More specific diagnoses: 39.0 (ICD-9 code) | systemic to pulmonary artery shunt 39.1 (ICD-9 code) | intra-abdominal venous shunt 39.2 (ICD-9 code) | other shunt or vascular bypass (9 subcategories) ... [11] by A Aledo-Serrano · 2021 · Cited by 10 — Moreover, many other clinical tools have been developed for the management of patients of DEEs after a negative or inconclusive genetic testing.

Treatment Options for Obsolete Early Infantile Epileptic Encephalopathy (EIEE)

Obsolete EIEE is a rare and severe form of epilepsy that affects infants. While there are no specific treatments mentioned in the search results, we can infer some general treatment options based on the context.

• Anti-seizure medications: Valproate, benzodiazepines, levetiracetam, ethosuximide, and sulthiame have been used to treat EIEE [1]. However, these medications may not be effective in all cases.
• Ketogenic diet: A ketogenic diet has been suggested as a treatment option for some forms of epilepsy, including EIEE [3].
• Surgery: Surgery may be considered if a focal abnormality is found on an MRI scan [3]. However, this is likely to be a rare occurrence in obsolete EIEE.
• Other treatments: Steroids (prednisolone) or hormones (ACTH) may also be tried as treatment options for some cases of EIEE [8].

It's essential to note that these treatment options are not specific to obsolete EIEE and may have varying degrees of effectiveness. Additionally, the search results suggest that EIEE is often medication-resistant, which means that these treatments may not be effective in all cases.

References:

[1] P Jain (2013) - The main aim of the treatment is to reduce or eliminate the epileptiform discharges. [2] H Nariai (2018) - Valproate is typically the first drug of choice in appropriate patients. [3] Aug 2, 2022 - How Is EIDEE Treated? [4] Jul 26, 2022 - In general, antiepileptic drugs (AEDs) that are considered "spike suppressors" such as valproic acid... [5] Oct 25, 2018 - Some of the drugs used to treat them include benzodiazepines, sodium valproate, levetiracetam... [6] by Y Masataka (2020) - We observed that cannabidiol supplements were highly effective in treating an infant boy with drug-resistant early infantile epileptic encephalopathy. [7] They may also suggest treatment with steroids (called prednisolone) or hormones (called ACTH). [8] Jul 26, 2022 - The agents used in the treatment of epilepsy include anticonvulsants and adrenocorticotropic hormones.

The differential diagnosis for Early Infantile Epileptic Encephalopathy (EIEE) 39, also known as obsolete EIEE 39, involves considering various conditions that may present with similar symptoms. Some of these conditions include:

• Acute provoked seizures due to hypoxic ischemic encephalopathy: This condition can cause seizures in infants and is often associated with a history of birth asphyxia or other perinatal complications [3].
• Metabolic etiologies: Certain metabolic disorders, such as phenylketonuria or maple syrup urine disease, can cause seizures and developmental delays in infants [4].
• Electrolyte disturbances: Imbalances in electrolytes like sodium, potassium, or calcium can lead to seizures and other neurological symptoms in infants [3].
• Other genetic epilepsies: Conditions such as PCDH19-related epilepsy or KCNQ2-related disorders may also need to be considered in the differential diagnosis of EIEE 39 [9][8].

It's essential to note that a comprehensive diagnostic evaluation, including EEG results and detailed clinical history, is necessary to accurately diagnose EIEE 39. A thorough understanding of these conditions can help guide healthcare providers in making an accurate diagnosis and developing an effective treatment plan.

References: [3] - Context #3 [4] - Context #4 [8] - Context #8 [9] - Context #9