These spheroids can be throughout the cerebral hemispheres, explaining the psychotic symptoms by disconnection of the brain from itself by axonal functional disruption.In the Peripheral nervous system, the disease is more severe. While most nervous system diseases affect either CNS or PNS, this disease affects both, but it is the changes in the peripheral nervous system that lead to death. This occurs by axonal disease paralyzing the skeletal muscles, including the respiratory muscles as a result of axonal damage in peripheral nerves. Changes in the axons are more severe in the PNS than CNS and under the electron microscope, some axons look necrotic, by virtue of containing mitochondrial flocculent densities and other irreversible changes. The lack of innervation of the body musculature during development gives rise to small body weights, often below 40 kilograms, remarkable in view of the preserved brain weights. Diagnosis
Typical diagnostic workup includes
clinical features
electrophysiologic testing
molecular genetic testing (SLC12A6)
magnetic resonance imaging (MRI) of the brain (revealing in 60% of the patients callosal agenesis and in 10% partial callosal agenesis)

Treatment
There is currently no cure, but some symptoms may be treated such as neuroleptics for the psychiatric problems. Prognosis
The prognosis is poor. Patients are usually wheelchair bound by their 20s and die by their 30s. Prevalence
The prevalence rate has been estimated to be less than 1/1,000,000 worldwide.
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the porphobilinogen deaminase. It is the most common of the acute porphyrias. Signs and symptoms
The clinical presentation of AIP is highly variable and non-specific. The patients are typically asymptomatic, with most gene carriers having no family history because the condition had remained latent for several generations. The syndrome marked by acute attacks affects only 10% of gene carriers. The mean age at diagnosis is 33 years old. Like other porphyrias, AIP is more likely to present in women. A distinguishing feature of AIP that separates it from other porphyrias is the absence of photosensitive cutaneous symptoms that occur in addition to acute attacks. Acute attacks
AIP is one of the four porphyrias that presents as an acute attack. 90% of affected individuals never experience an acute attack and are asymptomatic, while an estimated 5% of affected individuals experience repeat attacks. Attacks are most common in young adult women and are rare before puberty or after menopause. Severe acute attacks may require hospitalization. Patients usually experience symptoms in attacks that last from several hours to a few days. Between attacks, patients are asymptomatic.The most frequent presenting symptoms are abdominal pain and tachycardia. The abdominal pain is typically severe, colicky, poorly localized, and often associated with pain in back and legs. Patients may also present with vomiting and constipation, but diarrhea is unusual.