Episodic diencephalic hypoperfusion in Kleine-Levin syndrome

A 22 year-old woman suffered from recurrent episodes of hypersomnia, apathy, and hyperphagia. The symptoms occurred 3 to 4 times per year, and each attack lasted 2 to 3 weeks. 99mTc-ethylcysteinate dimer brain single photon emission computed tomography (SPECT) was performed during symptomatic and asymptomatic periods. To localize brain regions with perfusion changes during symptomatic period, asymptomatic SPECT was subtracted from symptomatic SPECT. The subtracted SPECT showed significant hypoperfusion in the left hypothalamus, bilateral thalami, basal ganglia, bilateral medial and dorsolateral frontal regions, and left temporal lobe during the symptomatic period. These cerebral hypoperfusion areas support the diencephalic hypothesis and clinical symptoms of Kleine-Levin syndrome.     

The Kleine-Levin syndrome: A review

Because of its rarity, the Kleine-Levin syndrome may go unrecognized or be misdiagnosed. Primarily affecting male adolescents, it is characterized by periodic hypersomnia, excessive eating, and psychiatric symptoms ranging from lethargy to hallucinations. This article reviews the manifestations, diagnosis, and treatment of the disorder, with particular attention to psychiatric symptoms as described in 33 well-documented cases. Psychiatrically, it may be the mirror image to anorexia nervosa.     

Clinical and polysomnographic characteristics of 34 patients with Kleine-Levin syndrome

There is only scant information on sleep characteristics and long-term follow-up in patients with Kleine-Levin syndrome (KLS). This study describes the clinical course, results of polysomnography and long-term follow-up in a relatively large group of patients with KLS. During the years 1982-97, we encountered 34 patients (26 males and eight females) with KLS. We were able to obtain the original polysomnographs from 28 males and four females. In 25 patients, data regarding their present state of health were obtained. Fourteen agreed to be present at a detailed interview and examination while 11 gave the information by phone. The mean age at onset was 15.8 +/- 2.8 years and the mean diagnostic delay, 3.8 +/- 4.2 years. The mean duration of a single hypersomnolent attack was 11.5 +/- 6.6 days. The main abnormal findings extracted out of 35 polysomnographs obtained from 32 patients during and/or in-between attacks included: decreased sleep efficiency, and frequent awakenings from sleep stage 2. All 25 patients reported present perfect health, with no evidence of behavioral or endocrine dysfunction. In adolescents with periodic hypersomnia, the diagnosis of KLS should be explored. Sleep recordings during a hypersomnolent period will often show frequent awakenings from sleep stage 2. The long-term prognosis is excellent.     

Histological findings in the Paterson-Kelly syndrome

Forty-one specimens taken from lesions in the post-cricoid region of patients with the Paterson-Kelly syndrome have been examined. Most webs consist of normal oesophageal mucosa which may be associated with underlying muscle and nerve lesions. Strictures also show a chronic non-specific inflammation often with epithelial changes and sometimes squamous carcinoma. Other lesions observed clinically have also shown malignant change.     

Histopathological findings in the combined immunity-deficiency syndrome

The histopathological appearances of the thymus, lymph nodes, spleen, and gut-associated lymphoid tissue (tonsil, Peyer's patches, and appendix) in cases of the combined immunity-deficiency syndrome are presented. The appearance of tissues remaining after foetal thymic transplants and the effects of such transplants on the morphology of lymph nodes are also discussed.Although thymic appearances are remarkably constant the picture in the lymph nodes and spleen may vary considerably. The tonsils, Peyer's patches, and appendix appear to constitute one lymphoid organ in man, at least with regard to the developmental arrest that may occur in this syndrome.     

Neuroendocrine evaluation in Kleine-Levin syndrome: evidence of reduced dopaminergic tone during periods of hypersomnolence.

A patient with Kleine-Levin syndrome had polysomnography and neuroendocrinological assays performed during asymptomatic (ASMP) and symptomatic (SMP) 24-hr periods. During the SMP, sleep data revealed poor nocturnal sleep efficiency, increased sleep fragmentation and reduced stages 3, 4 and rapid eye movement (REM). No sleep onset REM episodes were seen. Sleep staging in the ASMP was normal. Blood samples were obtained every 20 min and assayed for thyroid-stimulating hormone (TSH), cortisol (CORT), prolactin (PRL) and growth hormone (GH). Patterns of secretion, 24-hr mean and total integrated concentrations, and mean sleep period time values during the ASMP and SMP were compared. The mean 24-hr level of TSH was increased and GH decreased in the SMP. Comparing sleep period time in the SMP to the ASMP, values for TSH and PRL were increased and GH and CORT were reduced in the SMP. These hormone changes support the hypothesis that reduced hypothalamic dopaminergic tone is present in the SMP compared to the ASMP in Kleine-Levin patients.     

Neuropathological findings in Moebius syndrome

X-linked mental retardation (XLMR) is a genetically and clinically neterogenous common disorder. A cumulative frequency of about 1/600 male births was estimated by different authors, including the fragile X syndrome, which affects 1/4000 males. Given this very high cumulative frequency, identification of genes and molecular mechanisms involved in other XLMRs, represents a challenging task of considerable medical importance. In this report we describe clinical and molecular investigations in the family of a mentally retarded boy for whom a microdeletion in Xp21.3–22.1 was detected within the frame of a previously reported systematic search for deletion using STS-PCR screening. Thorough clinical investigation of the sibling showed that two affected brothers exhibit a moderate non-specific mental retardation without any additional neurological impairment, statural growth deficiency or characteristic dysmorphy. Molecular analysis revealed that the microdeletion observed in this family is an inherited defect which cosegregates with mental retardation as an X-linked recessive condition, since both non-deleted boys and transmitting mother are normal. These results and the inherited microdeletion detected within the same region associated with non-specific MR, reported by Raeymaekers et al., suggest that Xp21.3 MR locus is prone to deletions. Therefore, search for microdeletions in the eight families assigned by linkage analysis to this region might allow a better definition of the critical region and an identification of the gene involved in this X-linked mental retardation.     

Umbilical findings in Aarskog syndrome

We report on five patients with Aarskog syndrome who show previously undescribed umbilical features. Two of the five patients had protruding umbilicus, while the other three had a characteristic umbilicus consisting of a smooth depression with radiating branches of the cicatrix, and a flat cushion. These umbilical configurations have not previously been described in association with Aarskog syndrome. The flat configuration of the umbilicus could be a characteristic umbilical finding associated with Aarskog syndrome as well as the protruding umbilicus.     

Vestibular and audiological findings in the Alport syndrome

Alport syndrome (AS) is caused by mutations in collagen IV, which is widespread in the basement membranes of many organs, including the kidneys, eyes, and ears. Whereas the effects of collagen IV changes in the cochlea are well known, no changes have been described in the posterior labyrinth. The aim of this study was to investigate both the auditory and the vestibular function of a group of individuals with AS. Seventeen patients, aged 9–52, underwent audiological tests including pure‐tone and speech audiometry, immittance test and otoacoustic emissions and vestibular tests including video head impulse test, rotatory test, and vestibular evoked myogenic potentials. Hearing loss affected 25% of the males and 27.3% of the females with X‐linked AS. It was sensorineural with a cochlear localization and a variable severity. 50% of the males and 45.4% of the females had a hearing impairment in the high‐frequency range. Otoacoustic emissions were absent in about one‐third of the individuals. A peripheral vestibular dysfunction was present in 75% of the males and 45.4% of the females, with no complaints of vertigo or dizziness. The vestibular impairment was compensated and the vestibulo‐ocular reflex asymmetry was more evident in rotatory tests carried out at lower than higher speeds; a vestibular hypofunction was present in all hearing impaired ears although it was also found in subjects with normal hearing. A posterior labyrinth injury should be hypothesized in AS even when the patient does not manifest hearing disorders or evident signs of renal failure.     

Oral findings in fragile X syndrome

This study compares the oral findings in fragile X syndrome individuals to those of normal age-matched patients. Sixteen fra(X) males (mean age 22 10/12 years) had a low caries rate (decayed, missing and filled surfaces (DMFS) = 12.3) and minimal intraoral hard or soft tissue disease. Rate of malocclusion, as determined by the first permanent molar classification of Angle, was not significantly different from that of matched subjects. Fra(X) subjects had a significantly higher occurrence of malocclusion as compared to matched subjects using crossbite and openbite as criteria. Palatal dimensions of fra(X) subjects did not differ significantly from those of the matched sample. The fra(X) males also demonstrated significantly more severe occlusal wear of their teeth than the matched sample.     

Novel oral findings in Schimmelpenning syndrome

We report a patient with Schimmelpenning syndrome with two previously unreported oral manifestations: multiple pigmented malformed teeth and an adenomatoid odontogenic tumor of the anterior mandible. Also found were multiple complex odontomas, bilateral maxillary fibro-osseous lesions and recurrent central giant cell granulomas of the jaws.