Pediatric hereditary spastic paraplegia
Introduction
Introduction to hereditary spastic paraplegia in children Hereditary spastic paraplegia (hereditary spastic paraplegia), also known as familial spastic paraplegia (FSP), is a neurodegenerative disease characterized by chronic progressive paraplegia and weakness. Clinically, it can be divided into simple HSP and complex HSP: complex HSP in addition to lower extremity spastic paralysis, as well as visual impairment or ataxia; simple HSP, also known as Stumpell familial parasitic paraplegia (Stumpellfamilial spastic paraplegia), limited to Both lower extremities are spasmodic. basic knowledge The proportion of illness: 0.005% Susceptible people: children Mode of infection: non-infectious Complications: optic atrophy, retinitis pigmentosa, ataxia, mental retardation
Cause
Pediatric hereditary spastic paraplegia
(1) Causes of the disease
The etiology of hereditary spastic paraplegia is unknown, most of them are autosomal dominant, and can also be autosomal recessive and X-linked inheritance.
(two) pathogenesis
The pathogenesis is still unclear. Some people think that it is genetic inheritance, which is related to defects in the enzyme system. The pathological features are corticospinal degeneration, and sometimes Betz cells in the center of the brain can also be degenerated.
1. Pathological features of simple HSP are axonal degeneration of the central nervous system. Degenerative lesions occur in the lateral and posterior cords of the spinal cord, especially the spinal cord and cortical spinal cord and thin bundle, while the spinal cerebellar and spinal thalamus The beam is less damaged.
2. Genetics Since the first HSP family of disease-causing genes was located in 1986, the following HSP gene loci, autosomal dominant hereditary spastic paraplegia (AD-HSP), have been found in recent years. They are 14q11.2-24, 2P21-24, 15q11.1 and 8q23-24, two autosomal recessive hereditary spastic paraplegia (AR-HSP), which are 8p12-13 and 16q24..3 respectively. And X recessive hereditary spastic paraplegia (XR-HSP) two loci, xq16 and xq21-22, respectively. Recently, the new locus of autosomal recessive complex HSP was found to be 14q12-24.
Prevention
Pediatric hereditary spastic paraplegia prevention
For the prevention of this disease, the focus should be on genetic counseling and prenatal diagnosis.
Complication
Pediatric hereditary spastic paraplegia Complications optic atrophy retinitis pigmentosa ataxia mental retardation
Can be associated with optic atrophy, retinitis pigmentosa, cerebellar ataxia, mental retardation, muscle atrophy, etc., can occur arched feet, deep sensory and sphincter disorders, dyskinesia is prone to fall.
Symptom
Pediatric hereditary spastic paraplegia symptoms Common symptoms Lower limbs are scissor gait easy to fall joints joint stiffness weakness dysfunction bowel foot sacral reflexes
HSP can be seen at any age, but more common in children or adolescence, males are more common than females, often with a positive family history, mainly with slow onset, progressive progressive lower extremity paralytic paraplegia, the first symptoms are mostly inconvenient walking, stiff lower limbs Running is easy to fall, especially up and down stairs, physical examination can find the gait of the lower limbs scissors, the muscle tension of both lower limbs is increased, the sputum reflex is hyperthyroidism, the sputum is positive, and the pathology is positive. Most children may have arched feet, some children There are deep feelings of difficulty.
Clinically, only those with spastic paraplegia are referred to as simple HSP. Those with combined extramedullary lesions are called complex HSP. A few patients begin to show simple type, and extramedullary damage occurs decades later.
1. Simple HSP is more common. In 1987, Harding was further divided into simple HSPI type and type II according to the age of onset.
(1) Type I: Type I patients develop before the age of 35. Most patients with simple HSPI are male. The age of onset of AR-HSP is usually 3 to 6 years old or 10 years old.
(2) Type II: Patients with simple HSPII type develop after 35 years of age. AD-HSP has a late onset age, with an average age of 18 years. The pyramidal tract sign is obvious, and there are often sensory disturbances and sphincter disorders.
2. The age of onset of complex XR-HSP is generally 3 to 5 years old, all male, in addition to spastic paraplegia, and there are extra-spinal injury manifestations, according to different symptoms, constitute several types (syndromes or subtypes) ).
3. A small number of patients began to manifest as simple type, with extra-spinal damage occurring decades later.
Examine
Pediatric hereditary spastic paraplegia
General laboratory tests are normal.
About 2/3 of patients had abnormal somatosensory evoked potential (SSEP), 1/2 of patients had abnormal brainstem evoked potential (BAEP), and CT and/or MRI of brain and spinal cord were normal or cerebellar atrophy.
Diagnosis
Diagnosis and differential diagnosis of hereditary spastic paraplegia in children
The basis for diagnosis is as follows:
1 The age of onset is mostly between 10 and 35 years old, and may have a family history.
2 Slowly performing lower extremity spasm and weakness.
3 may be associated with optic atrophy, retinitis pigmentosa, cerebellar ataxia, mental retardation, muscle atrophy, etc. 4 brain CT and / or MRI are mostly normal.
According to the above performance, it should be differentiated from cerebral palsy (sputum type), spinal cord compression, hereditary motor neuron disease, spinal cord tumor and spinal arachnoiditis.
