Joubert syndrome: Report of a neonatal case

Joubert syndrome is an autosomal recessive disorder that is characterized by a variable combination of central nervous system, respiratory and eye anomalies. It is a syndrome with a variable phenotype: partial or complete absence of the cerebellar vermis is seen in all patients, while other cardinal findings include episodic tachypnea and apnea in the neonatal period, jerky eye movements, hypotonia, severe mental handicap, developmental delay, ataxia and impaired equilibrium. Even within sibships the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of Joubert syndrome. A case of Joubert syndrome in a newborn is reported and the importance of recognizing the syndrome in the neonatal period so that specific and effective supportive measures can be started as soon as possible is stressed

The Role of Nutrition in Women with Benign Cyclic Mastalgia: A Case-Control Study

Objective: Smoking, caffeine, oral contraception, and exercise are the most cited factors for premenstrual mastalgia in the literature, but remain controversial. In this study, we aimed to investigate the most often proposed nutritional factors for cyclic breast pain

Childhood Guillain-Barre syndrome - MR imaging in diagnosis and follow-up

Purpose: To evaluate the value of serially obtained spinal MR images in the diagnosis and clinical follow-up of childhood Guillain-Barre syndrome (GBS), and the time period for resolution of contrast enhancement during the course of illness

Tc-99m HMPAO brain SPECT in linear nevus sebaceous syndrome

The authors present a case of linear nevus sebaceous syndrome (LNSS) with atrophy of bilateral frontotemporal areas of the brain, left cerebellum and hippocampus, and bilateral uncal dysplasia demonstrated by magnetic resonance imaging (MRI). Magnetic resonance angiography revealed bilateral internal carotid artery hypoplasia with absence of flow in the anterior and middle cerebral arteries. Tc-99m HMPAO brain SPECT demonstrated more areas of perfusion defects while MRI, detected volume loss and gliosis in affected areas. Tc-99m HMPAO brain SPECT may be more useful for revealing absent or decreased perfusion areas of brain lesions than MRI in LNSS

Torticollis secondary to posterior fossa and cervical spinal cord tumors: report of five cases and literature review

Torticollis is either congenital or acquired in childhood. Acquired torticollis is not a diagnosis but rather a sign of an underlying disorder. The causes of acquired torticollis include ligamentous, muscular, osseous, ocular, psychiatric, and neurologic disorders and may be a symptom of significant abnormalities of the spinal cord and brain, such as spinal syrinx or central nervous system neoplasia. Torticollis is rarely considered to be an initial clinical presentation of posterior fossa and cervical spinal cord tumors. We report five cases of pediatric tumors with torticollis at the onset: an astrocytoma originating from the medulla oblongata, another presumptive astrocytoma of the spinal cord located between C1 and C6 cervical vertebrae (not operated), an ependymoma located throughout the whole cervical spinal cord extending into the bulbomedullary junction, an astrocytoma originating from the bulbus and extending into the posterior fossa, and another case of a eosinophilic granuloma located extradurally through the anterior and posterior portions of the vertebral bodies from C3 to C7 producing the collapse of the sixth cervical vertebra. All five cases were seen in children, aged between 3 and 12 years. All these cases reflect the misinterpretation of this neurological sign and the lack of association with the possibility of spinal or posterior fossa tumor. This delay in the diagnosis of these diseases led to progressive neurological deterioration and to the increase in the tumor size, which made surgical intervention difficult and the prognosis unfavorable. Although torticollis secondary to tumors is rarely seen, it is necessary to be kept in mind in the differential diagnosis