Diffuse axonal injury without direct head trauma and with delayed onset of coma.

A 16-year-old female was involved in a jet ski (water craft) accident resulting in bilateral lower extremity fractures but no loss of consciousness or any other evidence of head trauma. Thirty hours later she became comatose. Magnetic resonance imaging was consistent with diffuse axonal injury. She recovered after several weeks without any clinical sequelae. This patient demonstrates an unusual example of diffuse axonal injury without direct head trauma and with delayed onset of symptoms. The authors recommend that patients involved in high-velocity accidents, even without immediate evidence of head injury, be observed for signs of diffuse axonal injury.

Infantile progressive striato-thalamic degeneration in two siblings: a new syndrome.

The clinical features, neuroimaging, and neuropathologic findings of a new syndrome, characterized by onset in early infancy, progressive course, choreiform movements, hypotonia, and dysphagia, are described in 2 siblings originating from a consanguineous marriage. The serial neuroimaging studies indicated progressive loss of volume of both caudate nuclei and change in signal intensity in putamina. Pathologically, there was severe neuronal loss and gliosis in the striatum and thalamus. This pathologic pattern in association with clinical and radiologic correlates, to our knowledge, has not been previously described. It appears that this syndrome is an autosomal recessive disorder.

MRI changes in the central nervous system in a child with lupus erythematosus.

We report on a 10-year-old girl with systemic lupus erythematosus who presented in status epilepticus as the only manifestation of central nervous system involvement. MRI of the brain showed diffuse gray and white matter lesions which almost completely resolved after treatment with methylprednisolone. MRI findings in this child are similar to those in adults with diffuse clinical manifestations. The study is essential in the initial evaluation of patients suspected of central nervous system lupus.

Membranous nephropathy associated with multiple sclerosis.

Membranous nephropathy and multiple sclerosis are believed to be mediated by immune mechanisms. A patient is reported with the first described association of membranous nephropathy and multiple sclerosis. Its significance and possible pathogenetic mechanisms are discussed.

Improvement in peripheral nerve function after one year of Sorbinil.

The effect of 250 mg day-1 of the aldose reductase inhibitor, Sorbinil, upon peripheral nerve function was assessed in 23 adult diabetics with clinical neuropathy. Sorbinil was given for 4 weeks to 10 subjects, while 13 received placebo in this double-blind study. Open label treatment with Sorbinil was then continued for 52 weeks in 10 of the 23 subjects. Red cell sorbitol, hemoglobin A1c, vibratory sensation, median nerve sensory and motor conduction velocities were measured at 0, 4 and 52 weeks. There were no measurable changes in peripheral nerve function after 4 weeks of Sorbinil treatment. After 52 weeks significant improvement was found in the median nerve motor and sensory conduction velocities. This was associated with no change in blood glucose control but a reduction of erythrocyte sorbitol levels.

Nerve regeneration patterns after acute ischemic injury.

We performed morphologic studies on regeneration of the cat's hind limb nerves, following simultaneous ligation of the aorta and right femoral artery. There were 2 regeneration patterns depending on the extent of ischemic necrosis. When nerve infarcts were limited only to intrafascicular regions, there was no basic change of nerve microarchitecture during regeneration. Extension of the necrosis to the perineurium resulted in replacement of the original fascicle by a collection of small fascicles, many of which were surrounded by their own perineurium. These minifascicles formed within the boundaries of the old perineurium.

Intima of epineurial arterioles is increased in diabetic polyneuropathy.

Epineurial arteriolar wall components in sural nerves of 45 diabetics (39 with and six without neuropathy) were measured and compared with those of 34 healthy subjects. Intimal area and numbers of intimal nuclei were significantly greater in diabetics than in controls. Regression lines relating intimal to medial area in diabetics and controls had a common slope, but the line for diabetics was at a higher intercept. We found no direct association between increase of intima and severity of nerve fiber degeneration. These studies indicate that intima is increased in arterioles in diabetes, due primarily to proliferation of intimal cells. The increased intima, and possible resulting decrease of nerve perfusion, may contribute to development of diabetic polyneuropathy.

Severe encephalopathy associated with ifosfamide administration in two children with metastatic tumors.

We studied two children with recurrent cancer, who during treatment with ifosfamide developed severe encephalopathy characterized by coma of several days duration. Ifosfamide was used as a single drug without mesna as an uroprotector. A 1-hour infusion of ifosfamide (1.8 g/m2) was given on days one and two of a planned 5-day course. Encephalopathy was associated with severe electroencephalographic abnormalities, e.g. slowing in delta range in one patient and electrographic seizures in another. Both, clinical and electroencephalographic features of encephalopathy were reversible.

Carnitine palmityltransferase deficiency with permanent weakness.

A 16-year-old male had a history of muscle pain and exercise intolerance from the age of six years. At 14 years of age, he experienced the first episode of myoglobinuria and has had eight episodes subsequently. The longest interval between episodes was 14 months. Between attacks he manifested permanent, mild proximal limb weakness, elevated serum creatine kinase activity, and myopathic features indicated by electromyography and muscle biopsies. The muscle carnitine palmityltransferase activity was 30% of normal. This patient demonstrates that carnitine palmityltransferase deficiency can be a progressive disorder leading to permanent weakness. The need for early diagnosis and treatment is stressed.

Progressive necrotizing myelopathy associated with leukemia: clinical, pathologic, and MRI correlation.

We describe a patient with progressive, irreversible, necrotizing myelopathy associated with myelomonocytic leukemia. The neuropathologic lesions consisted of diffuse necrosis, most pronounced in the cervical cord and affecting both the gray and white matter. These areas corresponded to areas of increased T2 on magnetic resonance imaging scans of the patient. We felt that there was no causal relationship of these lesions to any single antileukemic agent the patient received, and no other local or systemic causes were found to explain the lesions at necropsy. It is suggested that our case is an example of paraneoplastic necrotizing myelopathy. To our knowledge, this is the third case of necrotizing myelopathy associated with leukemia reported in the English medical literature, and the first one demonstrating usefulness of magnetic resonance imaging in diagnosis of necrotizing myelopathy.

Computed tomography demonstration of cerebral calcification in postasphyxial encephalopathy.

Postasphyxial, diffuse cerebral calcification was demonstrated by computed tomographic (CT) brain scans in two infants. Calcification was seen in the white matter in both patients and in the basal ganglia in one. The neurologic outcome was poor in both infants.

Nerve and muscle vulnerability to ischemia.

Nerve and muscle vulnerability to structural damage during ischemia was examined in the hind legs of 50 cats after transient simultaneous clamping of the aorta and femoral artery for 1 to 10 h. Not until 5 h of ischemia were mild necrotic changes noted in nerves. Moderate to severe changes occurred after 8 h of ischemia. Contrariwise, mild muscle necrotic changes developed after 2-3 h, and moderate to severe changes after 5-7 h. The anterior tibialis muscle was usually more severely damaged than the gastrocnemius and soleus muscles. These studies demonstrate that: Longer periods of ischemia are required to produce nerve damage than suggested by previous tourniquet compression experiments. Longer periods of ischemia are necessary to produce necrosis in the posterior than anterior and lateral compartment muscles of the leg. Muscle is more vulnerable than nerve to ischemia.

Facioscapulohumeral dystrophy with cochlear hearing loss and tortuosity of retinal vessels.

We report on a mother and her three children with facioscapulohumeral dystrophy (FSHD), sensorineural hearing loss, and marked tortuosity of the retinal vessels. Initially the children presented with speech difficulties and hearing deficit. Hearing loss ranged from mild to severe. An audiologic evaluation, including brain stem auditory evoked responses in all patients, indicated a cochlear origin of hearing loss and intact pathways from the cochlea to the temporal lobe. The association of FSHD with hearing loss and tortuosity of the retinal vessels suggests previously unrecognized pleiotropy of FSHD (McKusick 15890) or a "new" type of FSHD.

Familial infantile myasthenia gravis. Report of three cases with follow-up until adult life.

We describe three siblings with familial infantile myasthenia gravis (FIMG). Contrary to previous reports suggesting a benign course of FIMG beyond the infantile period, our two patients had severe respiratory exacerbations in early adult life. Thymectomy was performed in the two more affected siblings, with only brief beneficial effect in one and no improvement in the other. Steroid therapy, employed in two patients who underwent thymectomy, resulted in no long-term improvement. The third patient has not required therapy. Recognition of FIMG has important therapeutic implications, because this disease shows rather poor response to thymectomy and steroid therapy.