Fulminating subacute sclerosing panencephalitis: case report and literature review.

We describe a young urban boy with atypically fulminant subacute sclerosing panencephalitis (SSPE). He had measles at 3 years of age despite receiving measles immunization in infancy. The literature describing acute SSPE is reviewed and summarized. This report reiterates the need to include SSPE as a diagnostic possibility in acute encephalopathic processes. The dismal prognosis of SSPE further emphasizes the need for measles vaccination and revaccination of all children who are initially immunized at an age of less than 15 months.

Improvement of Neuropsychiatric Lupus with Addition of SSRI Antidepressant/Antipsychotic Therapy.

Neuropsychiatric lupus erythematosus (NPLE) is a major cause of morbidity and mortality. We report a case involving an adolescent female who developed acute NPLE, manifesting as acute delusional depression with suicidal ideation. Despite high-dose corticosteroid therapy, these symptoms persisted. Within 7 to 10 days of initiation of paroxetine, a selective serotonin reuptake inhibitor (SSRI) and fluphenazine, an antipsychotic agent, the patient's neurovegetative symptoms of depression improved and suicidality remitted. Psychosis resolved with longer treatment. Undoubtedly these drugs were treating a psychiatric complication of the underlying disease. Our case supports the notion that some severe neuropsychiatric symptoms can be reversed without reliance upon immunosuppressants. It is premature to advocate unconditional acceptance of this approach, vet the findings in our case suggest that early adjunctive treatment with paroxetine and fluphenazine for steroid-resistant NPLE might spare a subset of patients the toxic effects and complications of immunosuppressants. This is the first report to describe a novel adjunctive treatment with the SSRI antidepressant, paroxetine. Our findings merit further investigation with larger numbers of patients.

Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko.

OBJECTIVE: To define the spectrum of disease in cases of hypopigmentation and hyperpigmentation along the lines of Blaschko more accurately. Pigmentary anomalies along the lines of Blaschko, including hypomelanosis of Ito, linear and whorled nevoid hypermelanosis, and nevus depigmentosus, can be associated with notable abnormal systemic features. We believe that the incidence of associated abnormal features described in previous studies is exaggerated owing to referral and reporting bias. DESIGN: Retrospective review of case series. SETTING: An ambulatory, university hospital, pediatric dermatology practice and a large, city hospital, pediatric dermatology clinic. PATIENTS: Fifty-four children referred consecutively over a 5-year period for evaluation of segmental, linear, or swirled hypopigmentation and/or hyperpigmentation along the lines of Blaschko. MAIN OUTCOME MEASURE: Incidence of associated abnormal systemic features. RESULTS: Extracutaneous abnormal features were present in 16 (30%) of 54 children with aberrant pigmentation along the lines of Blaschko: in 9 (33%) of 27 with hypomelanosis of Ito, in 4 (31%) of 13 with linear and whorled nevoid hypermelanosis, in 1 (11%) of 9 with nevus depigmentosus, and in 2 (40%) of 5 with coexistent hypopigmentation and hyperpigmentation. CONCLUSIONS: Pigmentary anomalies along the lines of Blaschko are associated with abnormal systemic features far less often than has been reported previously. These pigmentary anomalies should not be considered distinct syndromes but rather grouped as a heterogeneous collection of disorders indicative of underlying genetic mosaicism. Such a classification will allow better understanding and evaluation of affected persons.

Inversion-duplication of bands q13----q21 of human chromosome 9.

Structural abnormalities involving heterochromatic regions of the human genome are difficult to characterize because these segments are G-band negative by GTG technique, a routinely used procedure in clinical cytogenetic laboratories. Chromosome abnormalities of such cases have gone undetected or were incorrectly characterized because these regions are so-called heteromorphisms or variants. Consequently, much anxiety has been aroused by the confusion between a chromosome abnormality and a normal heteromorphic variant. We report the first documented case with a so-called highly unusual h region of chromosome 9 which is not a variation but a structural rearrangement involving a paracentric inversion and a duplication. The major clinical features were psychomotor retardation, microcephaly, narrow palpebral fissures, renal and genital anomalies, vertebral anomalies, protruding tongue, and learning and behavioral problems. A concise review of variable duplicated segments of 9q is also provided.

Vertebrobasilar occlusion complicating nonpenetrating craniocervical trauma in a child.

We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We have found no other reports of such treatment in juvenile vertebrobasilar occlusion that complicated nonpenetrating head and neck trauma.

Walker-Warburg syndrome. Case report and literature review.

The Walker-Warburg syndrome (WWS) is a fatal dysmorphic disorder of unknown etiology, but strongly suggests an autosomal recessive mode of inheritance. It is characterized by severe congenital oculo-cerebral malformations (lissencephaly, congenital hydrocephalus, and ocular lesions). The authors report a case of WWS that occurred in a consanguineous union, with a review of the literature. Possible pathogenesis, and disorders sharing the features of WWS are discussed. Families-at-risk for WWS should be identified for prenatal diagnosis and for genetic counselling.

Kabuki makeup syndrome (Niikawa-Kuroki syndrome) in a black child.

Kabuki makeup syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a dysmorphic disorder of unknown etiology, characterized by unusual facies, large protruding ears, postnatal dwarfism, and mental retardation. The syndrome has been seen almost exclusively in Japanese children. We report a case of KMS that occurred in a child of mixed ethnicity. Differential diagnosis is discussed.

Residual developmental disabilities in children with transient hypertonicity in infancy.

Developmental disabilities occurred in children who manifested transient neurologic abnormalities in early infancy. In an attempt to identify associated problems at an earlier age, the neuromotor and developmental progress of 33 children who had transient hypertonicity during early infancy was analyzed. At 2-3 years of age, various developmental abnormalities were identified in more than two-thirds of these children. Delays in speech and language development and also in fine motor/adaptive and behavioral difficulties were most frequently present. Over time, these problems persisted and other disorders also became apparent. At 5 years of age or older, learning disabilities were frequent and associated with language and perceptual problems. None of the patients had epilepsy; mental retardation was present in only 2 children. Our study demonstrates that children with transient hypertonicity in early infancy are at risk for various developmental problems which can be identified as early as 2 years of age. It also indicates that although their severity lessens over time, these developmental abnormalities tend to persist.

Developmental Gerstmann's syndrome.

The tetrad of finger agnosia, dysgraphia, dyscalculia, and right-left disorientation make up Gerstmann's syndrome. The tetrad has been infrequently described in children with learning disability and has been called developmental Gerstmann's syndrome (DGS). Developmental Gerstmann's syndrome may occur in brain-damaged and apparently normal children. Five children in whom DGS occurred in association with brain abnormalities underwent long-term observation, which indicated persistence of the deficits. The identification of these cases suggests that DGS may not be as rare as previously thought and may often be unrecognized. Testing for the Gerstmann elements in learning-disabled children may identify otherwise undiagnosed cases of DGS and should be routinely employed in the neurologic examination. Until appropriate teaching methods for DGS are found, "bypassing" the deficits and utilizing the child's strengths, plus counseling, seem to offer an effective treatment approach.

Congenital ocular motor apraxia. Case reports and literature review.

Two children with congenital ocular motor apraxia (C-OMA) associated with congenital malformations of the central nervous system (CNS) are presented, and the literature is reviewed. C-OMA is an abnormality of ocular motility characterized by defective or absent voluntary horizontal gaze, associated with a characteristic head thrust. Although not rare, it is infrequently recognized. C-OMA is not a specific disease entity, but a sign. It may be associated with other static congenital CNS disorders and must be distinguished from acquired ocular motor apraxias (A-OMA) seen in progressive brain disorders and in certain serious systemic diseases. Therefore, when movements typical of C-OMA are observed, a careful systemic and neurologic examination should be performed, including immunoglobulin screening, cranial computerized tomography scanning, and adequate follow-up. Close relatives also should be examined.

Developmental Gerstmann syndrome: case report and review of the literature.

The tetrad of finger agnosia, dyscalculia, dysgraphia, and right-left confusion constitutes the Gerstmann syndrome (GS). A case of developmental Gerstmann syndrome (DGS) that occurred in a normal, highly intelligent child with exceptional reading skills is reported, together with a review of the literature. DGS occurs in both brain-damaged and seemingly normal children. Multiple neurological and behavioral manifestations coexisting with the Gerstmann elements suggest brain injury, whereas the occurrence of the Gerstmann tetrad (plus constructional apraxia) in an otherwise normal and intelligent child implies what is herein referred to as "constitutional." The scarcity of reported cases indicates the rarity of the syndrome in children. Routine testing for the Gerstmann elements in learning-disabled children may uncover unrecognized cases.

Ophthalmologic findings in the fragile X syndrome.

The fragile X (Fra[X]) syndrome is a commonly encountered X-linked recessive chromosomal disorder associated with mental retardation that primarily affects males. The demonstration of a fragile site in the long arm of the X chromosome (Xq27-28) through special culture techniques confirms the diagnosis. Phenotypic features are often lacking, especially in early life. We studied the ophthalmologic and clinical characteristics of 15 patients (13 male and two female) with the Fra(X) syndrome and reviewed the clinical picture of the disorder. Strabismus was the most prevalent ophthalmologic abnormality and was observed in six patients. The frequent occurrence of strabismus in our series suggests that it is a commonly associated abnormality. It is recommended that the Fra(X) syndrome be added to the list of genetic and dysmorphic disorders with which strabismus is frequently associated.

Bilateral optic nerve aplasia associated with hydranencephaly.

A case of bilateral optic nerve aplasia (ONA) associated with hydranencephaly and other multiple congenital anomalies in an infant is reported. Its occurrence in an offspring of a consanguineous union may implicate an autosomal recessive transmission. A brief review of ocular embryology is presented in relation to the possible pathogenesis of bilateral ONA. Bilateral ONA is most likely to be due to failure of the retinal ganglion cells to develop, consequently, the optic disc and nerve, and the retinal blood vessels are absent. Bilateral ONA is rare, and is associated with major CNS anomalies, and with other multiple, often severe congenital malformations. Bilateral ONA appears to be a distinct entity, independent from its unilateral counterpart and can be adequately diagnosed on clinical grounds.

Idiopathic torsion dystonia associated with lesions of the basal ganglia.

We report two siblings who are suffering from a dystonic syndrome, clinically indistinguishable from idiopathic torsion dystonia (dystonia musculorum deformans) but with cranial computerized tomographic scan findings of basal ganglia lesions, similar to that reported in Wilson's disease. The occurrence of the disorder in the same sibship suggests an autosomal recessive mode of inheritance and may represent another variety of the syndrome of idiopathic torsion dystonia.

Periodic lateralized epileptiform discharges in infants and children.

Clinical and electroencephalographic data on 7 infants and children with periodic lateralized epileptiform discharges (PLEDS) in their electroencephalograms were reviewed. The waveform, periodicity, and transitory nature of these discharges were similar to those reported in adults. In children, as in adults, PLEDs reflect severe underlying brain dysfunction which is often associated with metabolic and structural abnormalities. In adults, PLEDs are usually associated with altered states of consciousness and with acute unilateral cerebral lesions; in children, however, they often occur with little or no alteration in consciousness and with chronic, diffuse lesions of the central nervous system.