11/18. Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophy. Two unrelated individuals with autistic behavior had numerous swollen axon terminals (spheroids) located in specific brain regions relevant to their behavioral symptoms. Spheroids are characteristic of neuroaxonal dystrophy, but the clinical profile and anatomic distribution of the lesions in these two patients differed from those of previously described patients with neuroaxonal dystrophy. Spheroids were numerous in the sensory nuclei of the spinal cord and medulla, specific nuclei and the reticular formation of the brainstem tegmentum, hypothalamus, anterior and dorsomedial thalamus, hippocampus, and cingulate and orbitofrontal cortices. Spheroids were sparse in the primary and association cortices and basal ganglia and absent in the hemispheric white matter. Cerebellar atrophy was present in both cases but associated with spheroids in only one case. These cases represent a new variant of neuroaxonal dystrophy in which behavioral symptoms characteristic of autism dominated the clinical picture. Neuroaxonal dystrophy should be included in the list of diseases that may be found in persons with autism. ( info) |
| A 7-month-old girl with infantile neuroaxonal dystrophy is reported. In diffusion MRI, the pyramidal tracts and dentate nuclei had high signal on b = 1,000 s/mm2 images and low apparent diffusion coefficient (ADC) values. This pattern likely reflected the presence of abnormal (dystrophic) axons with restricted mobility of water molecules. A reverse pattern was evident in the cerebellar cortex with high ADC values. This was likely a reflection of dysmyelination or lack of myelination. ( info) |
13/18. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. Infantile neuroaxonal dystrophy (INAD) is an autosomal recessive, neurodegenerative disease with onset in the first or second year of life. It has been reported that INAD shows numerous phenotype characteristics including problems associated with vision, hearing and physical coordination. It has however been very rare to see facial dysmorphism in these children. The study analyzes a girl and boy of a first cousin marriage with infantile neuroaxonal dystrophy affected at birth. At infancy, the children were examined in the Cerrahpasa Medical faculty genetic research Center, Istanbul. They had typical INAD features such as the lack of head control, vision, speech, sitting, and walking which are also seen in children with other congenital abnormalities. These children showed remarkable dysmorphism in the face which included prominent forehead, strabismus, small nose, fish mouth (boy), micrognathia, and large and low-settled ears. The presence of these facial features makes the patients appear unique and diagnosis more accurate. While these features are commonly seen diagnosis may be difficult at its onset. Until now this appearence has not been reported in INAD patients. In conclusion, in the first few months of life without any clinical or neurological signs, the physician should also consider diagnosing the disease of the infant as INAD. ( info) |
| We describe the neurologic findings in a patient with alpha-n-acetylgalactosaminidase deficiency (Kanzaki disease). Clinical and electrophysiologic studies revealed sensory-motor polyneuropathy, and sural nerve pathology showed decreased density of myelinated fibers with axonal degeneration. The patient had mildly impaired intellectual function with abnormal brain MRI and sensory-neuronal hearing impairment with repeated episodes of vertigo attacks. These findings suggest that Kanzaki disease may develop neurologic complications in the CNS and peripheral nervous system. ( info) |
15/18. Cerebellar hypoperfusion in infantile neuroaxonal dystrophy. An identical abnormal pattern was detected by means of (99m)Tc-hexamethyl-propyleneamine-oxime single-photon emission computed tomography in two siblings with infantile neuroaxonal dystrophy. The markedly decreased cerebellar perfusion, along with the early motor symptoms, characteristic magnetic resonance imaging and pathologic findings, points to a preferential cerebellar involvement in this disease. A relative increase in the perfusion to the basal ganglia correlated with the magnetic resonance imaging abnormalities, highly resembling that of Hallervorden-Spatz disease in one of the males, at this site. ( info) |
16/18. Seizure worsening caused by decreased serum valproate during meropenem therapy. serum concentrations of valproate were reduced and seizures were exacerbated by concomitant meropenem therapy in a child with a neurodegenerative disorder and epilepsy. In this patient, a rapid decline of valproate serum concentrations was observed on two occasions with meropenem antibiotic therapy. This event was the most likely cause of observed seizure exacerbation. Meropenem should be used with caution in patients treated with valproate owing to the drastic lowering of serum valproate concentration and the consequent risk of seizure worsening. ( info) |
17/18. Thalamic dementia: an example of primary astroglial dystrophy of Seitelberger. Pure thalamic dementia is highly uncommon and typically demonstrates widespread loss of neurons throughout the thalamus associated with reactive gliosis. This report describes an autopsy case in which there is widespread gliosis of subcortical white matter, focal hippocampal sclerosis and a unique proliferation of protoplasmic astrocytes in the thalamus, with limited bilateral focal loss of neurons. The alterations of the protoplasmic astrocytes consist of proliferation of perivascular feet surrounding blood vessels and velate sheets which surround individual neurons. It is proposed that the astrocytic alterations, or astrocytic dystrophy, constitute the primary and critical pathologic-change, sufficiently severe to produce dementia in the presence of a relatively intact neuronal population. ( info) |
18/18. Conjunctival biopsy in infantile neuroaxonal dystrophy. PURPOSE: To describe a case of infantile neuroaxonal dystrophy with optic nerve atrophy and to discuss the diagnostic role of conjunctival biopsy. methods: We performed a complete ophthalmologic examination and a diagnostic conjunctival biopsy on a girl with a neurodegenerative disease. RESULTS: On the basis of "spheroid" inclusions in the unmyelinated axons, we diagnosed infantile neuoroaxonal dystrophy. CONCLUSIONS: optic atrophy is an important finding in infantile neuroaxonal dystrophy, and conjunctival biopsy is a reliable and very convenient diagnostic test. ( info) |