Journal of Pediatric Diseases

Abstract Charcot-Marie-Tooth disease (CMT) affects 1 in 2500 people and more than 30 gene mutations play a causative role. It is the eponym for heritable peripheral neuropathy and is named for 3 investigators in the late 1800s. Different forms of CMT exist and the classification is still not completely ruled out. Mutations of the inverted formin-2 gene (INF-2) were identified in patients with focal segmental glomerulosclerosis [1]   (FSGS) and autosomal dominant intermediate Charcot-Marie Tooth (DI-CMT) disease. A novel unclassified variante, c.2659GA; p.E887K(het.), located on chromosome 14q32.33, was identified in a 21 months old child with unknown peripheral neuropathy and muscular weakness. The mutation leads to a change of amino acid glutamate to lysine in position 887. This variante was not described yet in world literature. 

Abstract Hydranencephaly is an extremely rare anomaly of cerebral structures that occurs in-utero. Cerebral hemispheres are destroyed with transformation into a membranous sac with cerebrospinal fluid and parts of cortex and white matter. The disorder has an incidence of 0.2% in children. Clinical symptoms in neonates are seizures, respiratory failure, flaccidity or decerebrate posturing. Complete absence of the cerebral hemispheres and falx are present. We present a case of a male newborn with hydranencephaly. A possible correlation with in utero exposure to vasoactive drugs will be discussed.

Abstract Alice in Wonderland Syndrome (AIWS) is named after a novel that was written by Lewis Carroll. The condition was first illustrated in 1955 by John Todd, a psychiatrist. Todd named it, for Alice's Adventures in Wonderland by Lewis Carroll. Perchance, Lewis Carroll suffered from severe migraine and the disorder as well. Alice in Wonderland Syndrome is a disorienting condition that affects one’s perception. AIWS is a neurological disorder that disturbs signals that are sent from the eyes to the brain, thereby causing a subsequent distortion in perception. The patients complain of visual, auditory and tactile hallucinations and altered perceptions. Alice in Wonderland Syndrome in childhood is very rare and can be baffling and terrifying for the patient; for he feels he is going mad in a weird world with warped perceptions and hallucinations. The causes for AIWS are still not known exactly. Migraine, temporal lobe epilepsy, brain tumors, depression, toxic and febrile delirium, psychoactive drugs, ischemic stroke and infections with EBV, mycoplasma and malaria are related features of AIWS. Neuroimaging studies reveal brain regions including the temporoparietal junction, the temporal lobe and the visual pathway, the occipital lobe. Abuse was yet not mentioned in this entity.