ABSTRACT
Intrauterine perfusion failure can cause cerebral malformations. We investigated the effect of transient maternal hypotension on newborn rat brain by inducing hypovolemic hypotension for 2.5 h during early embryonic day 7 (E7) or late (E15) gestation in pregnant rats. We found an increase in the number of TUNEL-positive cells within the periventricular germinative matrix in pups subjected to early gestational hypotension and within the cerebral cortex in those subjected to late gestational hypotension in comparison to sham control animals. These results suggest that episodic maternal hypovolemic hypotension may affect the fetal brain, and apoptotic mechanisms may mediate this effect.
Subject(s)
Brain/abnormalities , Hypotension/complications , Pregnancy Complications , Animals , Animals, Newborn , Brain/pathology , Female , Immunohistochemistry , In Situ Nick-End Labeling , Pregnancy , Rats , Rats, WistarABSTRACT
A 6-year old Turkish boy with a recently defined entity: "leukoencephalopathy with vanishing white matter" is described. He was born to consanguinous parents. His psychomotor development was normal till he first presented with fever and generalized tonic-clonic seizures at the age of 2.5, followed by rapid motor and mental deterioration. Decerebrate posture and marked spasticity subsequently developed. The initial MRI examination showed diffuse involvement of white matter, including subcortical U-fibers, with signal intensity parallel to CSF on all sequences. The white matter appeared swollen. The ventricles were slightly enlarged and there was cavum septi pellucidi et vergae. The posterior crus of the internal capsule, external and extreme capsules were affected. Cerebellar hemispheres and vermis showed atrophy. The involvement pattern of brainstem was noteworthy in that pontine tegmentum and cruri cerebri were affected. Follow-up MRI obtained after three years did not show any interval change. Brain biopsy showed thinned cortex with relatively preserved cortical layering and neuronal structure. There was rarefaction of the white matter with cystic degeneration. Fibrillary gliosis and increased number of oligodendroglial cells were observed within the cerebral white matter.
Subject(s)
Demyelinating Diseases/genetics , Heredodegenerative Disorders, Nervous System/genetics , Biopsy , Brain/pathology , Child , Child, Preschool , Consanguinity , Demyelinating Diseases/diagnosis , Demyelinating Diseases/pathology , Follow-Up Studies , Gliosis/pathology , Heredodegenerative Disorders, Nervous System/diagnosis , Heredodegenerative Disorders, Nervous System/pathology , Humans , Magnetic Resonance Imaging , Male , Nerve Fibers, Myelinated/pathology , Oligodendroglia/pathologyABSTRACT
Neuronal ceroid lipofuscinosis is one of the hereoffegenerative diseases for which clinical and neuropathologic findings are well documented. We present a patient with late infantile neuronal ceroid lipofuscinosis with true precocious puberty; to our knowledge, this association has not been reported before. The association could be due to an underlying disturbance of hypothalamic-pituitary gonadal function, or to coincidence.
Subject(s)
Neuronal Ceroid-Lipofuscinoses/diagnosis , Puberty, Precocious/diagnosis , Atrophy , Biopsy , Brain/pathology , Child , Consanguinity , Diagnosis, Differential , Female , Humans , Neurologic Examination , Neuronal Ceroid-Lipofuscinoses/genetics , Puberty, Precocious/geneticsABSTRACT
We report unusual MR serial imaging and electron microscopy findings in a 3-year-old boy who had Leigh syndrome with cytochrome-c oxidase (cox) deficiency. The MR imaging findings included periventricular white matter involvement, posteroanterior progression, and extension through the corpus callosum and internal capsule; however, no basal ganglia or brain stem abnormality was found, which was suggestive of leukodystrophy. The most noteworthy findings were the cystic foci with contrast enhancement in the affected white matter.
Subject(s)
Leigh Disease/pathology , Magnetic Resonance Imaging , Child, Preschool , Humans , MaleABSTRACT
Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients. Although it has been considered as an age-related, dopa-sensitive dystonia, the exact pathogenetic mechanism is still unknown. Aggravation of attacks by fatigue, intercurrent infection or vaccination, and possible corticomesencephalic dysmaturation may underlie this abnormality. We report on a sporadic case of paroxysmal tonic upgaze with ataxia in which there was prompt aggravation of symptoms with sleep without response to levodopa treatment. This case suggests a different underlying pathogenetic mechanism from dopaminergic pathways for this syndrome.
Subject(s)
Ataxia/diagnosis , Nervous System Diseases/diagnosis , Nystagmus, Pathologic/diagnosis , Ocular Motility Disorders/diagnosis , Child, Preschool , Electroencephalography , Female , Humans , Magnetic Resonance Imaging , SyndromeABSTRACT
We report a 16-month-old boy with acute disseminated encephalomyelitis (ADEM) who had an early relapse despite prompt treatment with high dose methylprednisolone. The second episode responded to intravenous immunoglobulin (IVIg). This case illustrates the probability of relapses or treatment failures in ADEM after steroid treatment, and the use of alternative drugs.
Subject(s)
Encephalomyelitis, Acute Disseminated/diagnosis , Encephalomyelitis, Acute Disseminated/drug therapy , Immunoglobulins, Intravenous/therapeutic use , Methylprednisolone/therapeutic use , Humans , Infant , Magnetic Resonance Imaging , Male , Recurrence , Salvage Therapy , Treatment OutcomeABSTRACT
We report 10 children with the diagnosis of acute disseminated encephalomyelitis. Diagnosis was based on clinical and radiologic findings, and after acute encephalitis was excluded by negative culture and antibody results. The most common presenting symptom was ataxia, followed by optic neuropathy, cranial nerve palsy, convulsions, motor dysfunction, and loss of consciousness. Brain magnetic resonance imaging showing bilateral symmetrical hyper-intense lesions of the same age in brain stem, subcortical white matter, thalamus, basal ganglia, or cerebellum was the mainstay of the diagnosis. The presence of a preceding event (either an infection or vaccination) was present in 8 of 10 patients. Brain computed tomographic scans were abnormal in 3 of 10, and electroencephalogram was normal in all patients. High-dose corticosteroids were given to six patients, one received low-dose steroids, and the other three had symptomatic follow-up. Those who relapsed were mainly from the symptomatic follow-up group. Only one patient (the youngest) receiving high-dose methylprednisolone relapsed. Therefore, early high-dose steroid treatment seems to be the most effective treatment in acute disseminated encephalomyelitis and can prevent relapses.
Subject(s)
Encephalomyelitis, Acute Disseminated/diagnosis , Encephalomyelitis, Acute Disseminated/therapy , Child , Child, Preschool , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Methylprednisolone/therapeutic use , Physical Examination , Prednisone/therapeutic use , Recurrence , Treatment OutcomeABSTRACT
Cardiac dysrhythmia can present signs and symptoms of a seizure disorder and sometimes they are clinically indistinguishable. We present two children with a presumed seizure disorder but also with an underlying and associated cardiac problem. Therefore, we suggest that both conditions must be considered concomitantly, and that each patient with a newly diagnosed seizure disorder requires both neurological and cardiological evaluation.
Subject(s)
Arrhythmias, Cardiac/diagnosis , Seizures/diagnosis , Child , Diagnosis, Differential , Female , Humans , MaleABSTRACT
We report in this article a girl with an initial diagnosis of autoimmune hepatitis who developed full-blown systemic lupus erythematosus (SLE) at her two-years follow-up. She was formerly considered as HBV-related chronic active hepatitis but due to the persistence of elevated liver enzymes, the reversal of the albumin and globulin ratio and abnormal HBV serology, she was later diagnosed as autoimmune hepatitis. With the clinical findings of arthritis, arthralgia and malar rash and supported by results of laboratory tests, she was diagnosed as a case of unusual SLE presenting with autoimmune hepatitis. We conclude, therefore, that each patient with a diagnosis of autoimmune hepatitis in childhood who exhibits abnormal HBV serology must be evaluated for a possible diagnosis of SLE.
Subject(s)
Hepatitis, Autoimmune/diagnosis , Lupus Erythematosus, Systemic/diagnosis , Child , Diagnosis, Differential , Female , Hepatitis B, Chronic/diagnosis , HumansABSTRACT
In this paper, we describe a newborn diagnosed with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) at two days of age. She presented with severe asymptomatic hypoglycemia and required both a high rate of glucose infusion and diazoxide treatment. On the 9th hospital day, due to persistent and intractable hypoglycemia, subcutaneous octreotide treatment was initiated. This treatment reduced the rate and concentration of glucose needed to be infused but the hypoglycemia did not subside totally. On the 18th hospital day near-total pancreatectomy was performed. Tachyphylaxis resulting from continuous use of octreotide limited its effect but enabled us to keep the patient euglycemic preoperatively.
