Clinical practice guidelines for the diagnosis and treatment of scabies.

Scabies, caused by the Sarcoptes scabiei var hominis mite burrowing into the skin, is a highly contagious disease characterized by intense nocturnal itching. Its global impact is considerable, affecting more than 200 million individuals annually and posing significant challenges to healthcare systems worldwide. Transmission occurs primarily through direct skin-to-skin contact, contributing to its widespread prevalence and emergence as a substantial public health concern affecting large populations. This review presents consensus-based clinical practice guidelines for diagnosing and managing scabies, developed through the fuzzy Delphi method by dermatology, parasitology, pediatrics, pharmacology, and public health experts. The presence of burrows containing adult female mites, their eggs, and excreta is the diagnostic hallmark of scabies. Definitive diagnosis typically involves direct microscopic examination of skin scrapings obtained from these burrows, although dermoscopy has become a diagnostic tool in clinical practice. Treatment modalities encompass topical agents, such as permethrin, balsam of Peru, precipitated sulfur, and benzyl benzoate. In cases where topical therapy proves inadequate or in instances of crusted scabies, oral ivermectin is recommended as a systemic treatment option. This comprehensive approach addresses the diagnostic and therapeutic challenges associated with scabies, optimizing patient care, and management outcomes.

Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling.

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders affecting approximately 1/3500 individuals in all ethnic groups. It is characterized by cutaneous and plexiform neurofibromas, café-au-lait spots, Lisch nodules, freckling in axillary and inguinal regions, optic gliomas and an increased risk of malignancy. The mutation rate of NF1 is one of the highest known for human disorders: approximately 50% of all affected individuals carry de novo mutations. Detection of disease causing mutations in the NF1 gene allows presymptomatic and prenatal diagnosis, but is complex and time-consuming due to the large size of the gene, the existence of pseudogenes, the lack of clustering of the mutations in a particular region of the gene, and the variability of clinical findings. Because the time for investigations in prenatal diagnosis is restricted, detection of disease-associated NF1 alleles is more rapid and useful especially for familial cases. Therefore, genetic diagnosis of NF1 is frequently performed by linkage analysis. In our laboratory, 37 families were characterized with this method, of which two requested prenatal diagnosis. One fetus was found to be under NF1 risk. However, parents elected to continue pregnancy: the child is now 2.5 years old and has NF1 features. The phenotypic variability and the absence of genotype-phenotype correlation create difficulties in reproductive decisions for NF1 families, underlining the importance of appropriate counseling and detailed discussion of possible outcomes before genetic testing of the fetus.

Are there any differences among psoriasis, psoriatic arthritis and rheumatoid arthritis in terms of metabolic syndrome and cardiovascular risk factors?

OBJECTIVE: Although the frequency of metabolic syndrome has been studied separately in psoriasis, psoriatic arthritis (PsA), and rheumatoid arthritis (RA) patients, there is no study that compares the prevalence of metabolic syndrome in all three diseases. The purpose of this study is to evaluate the relationship between metabolic syndrome (MetS) and chronic low-grade inflammatory diseases, and to determine the frequency of MetS and insulin resistance in psoriasis and PsA as compared to RA. METHODS: A total of 155 patients were included in this cross-sectional study. Fifty patients who were diagnosed with psoriasis, 55 PsA patients who were diagnosed according to the CASPAR criteria, and 50 seropositive RA patients who were diagnosed according to the ACR/EULAR 2010 classification criteria were included in this study. MetS was diagnosed by the 2005 criteria of International Diabetes Federation. The cardiovascular risk factors and parameters associated with MetS were evaluated. RESULTS: The patients' mean age was significantly higher in the RA. MetS was determined in 33.5% of all patients and MetS and insulin resistance showed no significant difference among the three groups (psoriasis: 36%, PsA: 29%, RA: 36%; p: 0.684 and psoriasis: 70%, PsA: 64%, RA: 66%, respectively; p: 0.785). Triglyceride levels were higher in psoriasis and PsA as compared to the RA (psoriasis: 34%, PsA: 32.7%, RA: 16%, respectively; p: 0.045). The frequency of hypertension was 38% in the RA, which was higher than PsA and psoriasis (p: 0.011). CONCLUSION: In all three groups, the prevalence of MetS was shown to be higher than the general population. The lack of difference between these groups may be due to the small number of patients, the retrospective study design, and the inequality of the population with respect to age and gender.

AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

BACKGROUND: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1). METHODS: We screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1 deletion by sequencing and marker analysis. RESULTS: We identified a total of 15 novel AHI1 mutations in 13 families, including nonsense, missense, splice site, and insertion mutations, with some clustering in the WD40 domains. Eight families were consanguineous, but no single founder mutation was apparent. In addition to the MTS, retinal dystrophy was present in 11 of 12 informative families; however, no subjects exhibited variable features of JS such as polydactyly, encephalocele, colobomas, or liver fibrosis. In contrast to previous reports, we identified two families with affected siblings who developed renal disease consistent with nephronophthisis (NPH) in their 20s. In addition, two individuals with classic NPH were found to have homozygous NPHP1 deletions. CONCLUSIONS: Overall, 11% of subjects had AHI1 mutations, while approximately 2% had the NPHP1 deletion, representing a total of less than 15% in a large JS cohort. Some preliminary genotype-phenotype correlations are possible, notably the association of renal impairment, specifically NPH, in those with NPHP1 deletions. Subjects with AHI1 mutations may be at risk of developing both retinal dystrophy and progressive kidney disease.

Intraventricular interferon and oral inosiplex in the treatment of subacute sclerosing panencephalitis.

We treated 22 patients with subacute sclerosing panencephalitis (SSPE) with intraventricular alpha-interferon (IFN) and inosiplex PO and followed them for 2 to 54 months. Three deaths occurred. Clinical improvement, demonstrated by decreasing scores on the Neurological Disability Index, occurred in 11/22 (50%); five patients became stable, and the progression rate of the disease decreased in three. The remission rate was significantly higher than untreated controls from the same institution. Patients who had a slowly progressive disease responded best to treatment. Serious side effects were rare. We recommend intraventricular IFN, combined with oral inosiplex, in the treatment of SSPE.

Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.

Most cases of dopa-responsive dystonia (DRD) are thought to be caused by mutations in the GCHI gene; however, by sequencing, mutations are found in only 40% to 60%. Recently, a single report identified, via Southern blot analysis, a large genomic GCHI deletion in a "mutation-negative" case. This report describes four families with DRD, two of which carry large deletions, thus confirming that deletions are an important subtype of GCHI mutations. These deletions were detected by quantitative duplex PCR that is amenable to DNA diagnostics.

Alice in Wonderland syndrome as an initial manifestation of Epstein-Barr virus infection.

We present a patient with serologically confirmed Epstein-Barr virus (EBV) infection who had illusions of size, shape, and colour of objects but none of the typical symptoms and signs peculiar to infectious mononucleosis (IM) except sore throat which developed 2 weeks after the initial visual disturbances. The bizarre feelings about the images of body and objects are called the 'Alice in Wonderland syndrome' due to the similarity with Alice's dreams. The same symptomatology including visual metamorphosia is defined in patients with migraine, epilepsy, intoxication due to hallucinogenic drugs, schizophrenia, hyperpyrexia, and cerebral lesions. Alice in Wonderland syndrome has also been reported in the course of IM.

Syncope as a first sign of seizure disorder.

We studied the long-term follow-up of patients with the diagnosis of "syncope of unknown origin," and their progression to epilepsy to gain a better understanding of the relationship between syncope and epilepsy, and to determine whether findings of the first syncopal attack have prognostic significance in relationship to the onset of epilepsy or not. Eighteen patients with the diagnosis of syncope of unknown origin were evaluated for the possibility of becoming epileptic during a 4-year period, and four patients showed characteristic seizure disorder. There were no clinical or laboratory features that differentiated them from the nonepileptic group, except that they were all girls. The interval between the first syncopal attack and the typical epileptic seizure ranged between 7 and 19 months. Syncope of unknown origin could be the first sign of an epileptic disorder, especially in girls. Long-term follow-up extending up to 1 year is necessary to disclose the risk of becoming epileptic.

Clinical experience on headache in children: analysis of 92 cases.

We analyzed, retrospectively, 92 patients with headache to determine the changes in the order of frequency of causes with the development of neuroimaging studies and its efficacy in the investigation of patients with headache. The type of headache was redefined according to the International Headache Society (IHS) diagnostic criteria. Migraine was the most frequent cause of headache and the rest in decreasing order were: tension-type headache, sinusitis, and epilepsy. The percentage of the findings relevant to headache in computed tomographic (CT) scans, magnetic resonance images (MRIs), Waters' projection (radiographs), and electroencephalograms (EEGs) were respectively 4.2%, 33.3%, 16%, and 25%. Neuroimaging studies are not necessary in the routine evaluation of patients with headache unless there is an abnormality in the findings. When it is needed, MRI, which has higher yield, can take the place of CT scanning. The most important point is taking a proper history of headache and making a thorough physical and neurologic examination of the patient.

Intramedullary astrocytoma presenting as spinal muscular atrophy.

We present a 6-year-old patient with a spinal cord tumor who had been followed with the diagnosis of spinal muscular atrophy since the age of 23 months. Reasons for reevaluating the diagnosis of spinal muscular atrophy were the early onset of scoliosis, the slight asymmetry in weakness of extremities, and the appearance of urinary retention in the last 3 days. Magnetic resonance imaging revealed a very long, intramedullary tumor extending from the level of the seventh cervical segment to the conus medullaris, later reported to be a grade I astrocytoma. We therefore recommend that magnetic resonance imaging, a noninvasive and sensitive technique for intraspinal pathologies, be performed in every patient with an atypical form of spinal muscular atrophy.

A case of late infantile neuronal ceroid lipofuscinosis associated with precocious puberty.

Neuronal ceroid lipofuscinosis is one of the hereoffegenerative diseases for which clinical and neuropathologic findings are well documented. We present a patient with late infantile neuronal ceroid lipofuscinosis with true precocious puberty; to our knowledge, this association has not been reported before. The association could be due to an underlying disturbance of hypothalamic-pituitary gonadal function, or to coincidence.

Tissue inflammatory response in subacute sclerosing panencephalitis (SSPE).

The pattern of inflammatory infiltration was studied in the frontal brain biopsies of 28 cases with subacute sclerosing panencephalitis (SSPE) by immunohistochemistry. Lymphocytic infiltration and gliosis were common pathologic findings. CD4+ T lymphocytes were often observed in perivascular areas and CD8+ lymphocytes in the parenchyma. B lymphocytes were located in large perivascular cuffs associated with longer and slower disease. Major histocompatibility complex antigens, interferon-gamma, and tumor necrosis factor-alpha (TNF-alpha) were expressed in endothelial and glial cells. The inflammatory lesions in subacute sclerosing panencephalitis consist of various cell subtypes and cytokines localized in particular areas of the brain tissue and show certain associations with clinical course.

Selective involvement of the quadriceps muscle in congenital muscular dystrophies: an ultrasonographic study.

Muscle ultrasound scanning is a non-invasive and painless technique for evaluating muscle disorders in childhood. We have performed ultrasound scans of the quadriceps muscle in 26 children with various forms of congenital muscular dystrophies. There were 8 patients clearly showing selective involvement within the components of the quadriceps. In all cases showing selective involvement, the rectus femoris was spared and the vastus muscles were the affected group. Our findings support the concept of heterogeneity, often encountered in congenital muscular dystrophies.

Cell mediated immunity in patients with subacute sclerosing panencephalitis.

Cell mediated immunity was assessed on the basis of total lymphocytes (TL), total T lymphocytes (TTL) counts, delayed skin test responses and in vitro leucocyte migration inhibition test (LIF) production in 25 patients with SSPE, classified according to the clinical stages of the disease. The patients in stage I of the disease did not show any defect in cellular immunity while the patients in stage II showed decreased TL and TTL counts, more negative skin test responses to PHA, SKSD and PPD, and unresponsiveness to SKSD of LIF production. When the patient group was evaluated as a whole, only the TL counts and the skin test responses against SKSD differed from those in the controls. These results suggest that the defects in cellular immunity demonstrated in the patients with SSPE may be due to SSPE or the measles virus itself rather than to a genetic factor predisposing patients to SSPE.

Weight gain associated with valproate in childhood.

Weight gain is a common side effect of valproate treatment. Several mechanisms have been suggested for its pathophysiology; of these, impairment of beta-oxidation of fatty acids and increased insulin secretion have been supported by clinical studies. To investigate whether changes in carnitine and insulin levels had a role in the weight gain occurring with valproate treatment in children, 20 patients with epilepsy were randomly assigned to receive either carnitine or placebo supplementation in addition to valproate. After a follow-up period of 3 months, weight gain was observed in both groups. The mean insulin concentration and insulin/glucose ratios increased. Weight gain did not correlate with carnitine levels. These results suggest that weight gain during valproate treatment is not related to a decrease in carnitine levels. However, an increase in insulin levels together with a decrease in glucose levels may cause weight gain, possibly by stimulating appetite.

Neuronal migration disorders presenting with mild clinical symptoms.

Two children with neuronal migration disorders and unexpectedly mild clinical symptoms are reported. The first patient was followed with the diagnosis of febrile convulsion and seizures associated with fever for 14 years. Computed tomography scans were normal. Although periodic slow waves of the left parietal cortex were detected on the first two electroencephalograms, his latest examination was normal. Magnetic resonance imaging performed at 16 years of age disclosed a left parietal schizencephaly extending between the parietal cortex and corpus callosum. The second patient was followed with the diagnosis of febrile convulsion for 2 years and later experienced afebrile seizures. On his latest visit, a posterior parietal pachygyric region and a parieto-occipital island heterotopia on the left hemisphere were diagnosed by magnetic resonance imaging. We believe that review of these patients, at the mildest end of the clinical spectrum of neural migration disorders, will contribute to a new understanding of the correlation between clinical and pathologic findings of neuronal migration disorders.

Arteriovenous fistula: a cause of torticollis.

Torticollis is a symptom that may represent a wide spectrum of disorders ranging from a simple etiology to a life-threatening pathology. Pediatricians have to suspect central nervous system abnormalities whenever faced with torticollis. The authors report an arteriovenous fistula at the craniocervical junction in a patient presenting with torticollis.

Neurologic features as initial presentations of childhood malignancies.

Thirty patients were examined initially because of neurologic problems and later were diagnosed as having systemic malignant disorders. Acute leukemia was the most common malignancy (36.6%), followed by neuroblastoma (33.3%), non-Hodgkin lymphoma (13.3%), rhabdomyosarcoma (10%), Ewing tumor (3.3%), and Hodgkin lymphoma (3.3%). Four of the 11 acute leukemia patients had nervous system involvement due to meningeal, orbital, or cerebellar infiltration. The complaints of the remaining patients included back pain, weakness, and difficulty in walking, all of which were caused by anemia or bone pain. Neurologic involvement in systemic malignancies, other than acute leukemia, mainly appeared as spinal cord compression (7 with neuroblastoma, 3 non-Hodgkin lymphoma, 1 rhabdomyosarcoma, 1 Ewing tumor), orbital or cavernous sinus infiltration (3 with acute leukemia, 1 rhabdomyosarcoma), and VIIth cranial nerve involvement (2 with rhabdomyosarcoma). One patient had skull infiltration without any neurologic deficit. Cerebellar signs were caused by the remote effects of cancer. It is concluded that acute leukemia is the first and neuroblastoma is the second most common malignancy among childhood systemic malignancies presenting with neurologic involvement; however, neuroblastoma is the most common cause of spinal cord compression.

Monomelic amyotrophy in siblings.

Monomelic amyotrophy is a rare, benign motor neuron disorder. Electrophysiologic studies are suggestive of localized chronic anterior horn cell disease. Two young siblings are reported with monomelic amyotrophy who had proximal muscle weakness confined to one arm. We propose that monomelic amyotrophy, at least in this family, is inherited as an autosomal recessive trait.

A case of Sandifer's syndrome with hand tremor.

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.