Two patients with Kabuki syndrome presenting with endocrine problems.

A 4 year-old boy with mental retardation and seizures presented to the pediatric endocrinology clinic because of a history of hypoglycemia; a 16 month-old girl with developmental delay presented with bilateral breast tissue enlargement; in both, a diagnosis of Kabuki syndrome was made because of typical facial features, neurodevelopmental delay and other stigmata consistent with Kabuki syndrome. Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems with a broad spectrum of abnormalities. The facial features of the syndrome are specific and independent of ethnic origin. In addition to presenting with endocrine problems, the patients reported here exhibit some novel findings such as congenital alopecia areata and hyperpigmented skin lesion. The diagnosis of Kabuki syndrome should be considered in patients with hypoglycemia or premature thelarche when associated with developmental delay and a peculiar facies.

Siblings with cystic leukoencephalopathy and megalencephaly.

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family.

Acquired hepatocerebral degeneration: MR and pathologic findings.

Acquired (non-Wilsonian) hepatocerebral degeneration (AHD) is a rare irreversible neurologic syndrome that occurs in patients with chronic liver disease associated with multiple metabolic insults. The pathophysiology and the locations of the cerebral injuries are incompletely understood. We describe a patient with fatal hepatic cirrhosis and AHD in whom MR images showed abnormalities in the brachium pontis bilaterally. Neuropathologic evaluation disclosed multiple regions of subcortical spongiform white matter changes.

The murine P84 neural adhesion molecule is SHPS-1, a member of the phosphatase-binding protein family.

P84 is a neuronal membrane glycoprotein that promotes the attachment and neurite outgrowth of cultured murine cerebellar cells. The heterophilic adhesive properties of P84 and its localization at sites of synaptogenesis suggest that it may be involved in regulation of synapse formation or maintenance. P84 is expressed in subsets of neurons throughout the CNS. By cloning the cDNA encoding murine P84, we have discovered that this molecule is a member of a family of phosphatase-binding proteins and is identical to the murine SHPS-1 cDNA. Here we report the cloning of two alternatively spliced forms of P84 and describe its localization within the CNS by in situ hybridization.

Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.

Episodic ataxia and myokymia syndrome is an autosomal dominant disorder characterized by persistent myokymia and attacks of unsteadiness, slurred speech, and tremulousness. This disease has been associated with point mutations in the potassium channel gene Kv1.1 (KCNA1), located at chromosome 12p13. Here, we describe a novel mutation within this gene in a newly diagnosed family.

Neurological manifestations of acute posterior multifocal placoid pigment epitheliopathy.

BACKGROUND: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a chorioretinal disease that causes acute visual symptoms with characteristic fundus findings. Although this entity has been associated with a variety of neurological complications, it has received little attention in the neurological literature. We wanted to emphasize the spectrum of neurological involvement, in particular the occurrence and management of strokes in patients with APMPPE. CASE DESCRIPTIONS: We report three patients with APMPPE and neurological disease. All three presented with marked visual disturbances and headaches. One patient developed recurrent strokes involving different vascular territories of the brain and required immunosuppressive treatment for presumed cerebral vasculitis. The other two patients had cerebrospinal fluid pleocytosis and persistent headaches but recovered spontaneously. The review of the literature demonstrates a particular pattern of neurological complications in a subgroup of patients with APMPPE. CONCLUSIONS: APMPPE should be considered among the causes of stroke and aseptic meningitis in young adults. The diagnosis is critically dependent on a thorough ophthalmologic examination. Severe neurological complications are difficult to predict at the onset of the ophthalmologic disease. The patients should be monitored closely. If investigations suggest cerebral vasculitis, immunosuppressive treatment may be helpful to prevent recurrences.