PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

BACKGROUND: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a distinct neurodevelopmental disorder. Patients without optic nerve atrophy and brain imaging abnormalities but fulfilling other PEHO criteria are often described as a PEHO-like syndrome. The molecular bases of both clinically defined conditions remain unknown in spite of the widespread application of genome analyses in both clinic and research. METHODS: We enrolled two patients with a prior diagnosis of PEHO and two individuals with PEHO-like syndrome. All four individuals subsequently underwent whole-exome sequencing and comprehensive genomic analysis. RESULTS: We identified disease-causing mutations in known genes associated with neurodevelopmental disorders including GNAO1 and CDKL5 in two of four individuals. One patient with PEHO syndrome and a de novoGNAO1 mutation was found to have an additional de novo mutation in HESX1 that is associated with optic atrophy. CONCLUSIONS: We hypothesize that PEHO and PEHO-like syndrome may represent a severe end of the spectrum of the early-onset encephalopathies and, in some instances, its complex phenotype may result from an aggregated effect of mutations at two loci.

[Juvenile idiopathic arthritis and oral health]. / Mlodziencze idiopatyczne zapalenie stawów a stan jamy ustnej.

Juvenile idiopathic arthritis (JIA) is the most common autoimmune inflammatory disease of connective tissue in children. It is characterized by progressive joint destruction which causes preserved changes in the musculoskeletal system. The literature describes fully clinical symptoms and radiological images in different subtypes of JIA. However, there is still a limited number of studies reporting on the medical condition of the oral cavity of ill children. JIA can affect hard and soft tissues of the oral cavity by: the general condition of the child's health, arthritis of the upper limbs, as the result of the pharmacotherapy, changes in secretion and composition of saliva, inflammation of the temporomandibular joint and facial deformity. The study summarizes the available literature on the condition of the teeth and periodontal and oral hygiene in the course of JIA. The presence of diverse factors that modify the oral cavity, such as facial growth, functioning of salivary glands, or the supervision and care provided by adults, prevents clear identification if JIA leads to severe dental caries and periodontal disease. Despite conflicting results in studies concerning the clinical oral status, individuals with JIA require special attention regarding disease prevention and maintenance of oral health.

The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities.

We report on a de novo interstitial deletion of 20q11.21-q11.23 in a 2-year-old girl with a set of dysmorphic features, cleft palate, heart defect, severe feeding problems, failure to thrive, developmental delay, preaxial polydactyly (right thumb), and retinal dysplasia. Interstitial microdeletions of the long arm of chromosome 20 are rare. Exclusively rare are proximal microdeletions involving 20q11-q12 region. Our patient is the fourth described so far and has the smallest deleted region 20q11.21-q11.23 of 5.7 Mb. The defined clinical phenotype of our patient is very similar to previously published cases and confirms the existence of retinal dysplasia and skeletal abnormalities as a part of phenotypic spectrum for deletion 20q11-q12. Description of four similar patients, including two almost identical, suggests a new distinct, phenotypicaly recognizable microdeletion syndrome associated with the loss of 20q11-q12 region.

[Systemic and ophthalmological findings in Cornelia de Lange syndrome]. / Objawy ogólne i okulistyczne zespolu Cornelii de Lange.

Cornelia de Lange Syndrome (CdLS, de Lange syndrome, Brachmann-de Lange syndrome), is a relatively rare genetic disorder, characterized by set of clinical abnormalities concerning different organs and systems. Phenotypic diagnosis is based on a specific dysmorphic features seen after the birth. We described a genetic basis, hereditary patterns, characteristic dysmorphic features and the most common clinical findings of patients Cornelia de Lange Syndrome concerning eye and vision, hearing, cardiovascular, respiratory, gastrointestinal, genitourinary, skeletal and psychomotor development.

[Treatment of nasolacrimal duct obstruction with probing in children younger than 4 years]. / Leczenie niedroznosci dróg lzowych za pomoca sondowania dróg lzowych u dzieci w wieku ponizej 4 lat.

PURPOSE: To evaluate the efficacy of nasolacrimal duct probing as the treatment of nasolacrimal duct obstruction in children younger than 4 years. MATERIAL AND METHODS: A total amount of 320 eyes in 275 children 4 to 48 months old, receiving nasolacrimal duct probing were enrolled in a retrospective study. The patients were divided into 4 groups depends on age: I group--4-12 months, II group--12-24 months, III group--24-36 months and IV group--36-48 months. RESULTS: The percentage of efficient duct probing was: in I group--84%, in II group--79%, in III group--78% and in IV group--59%. CONCLUSIONS: In children 4 to 36 months old, probing is a successful treatment of nasolacrimal duct obstruction with no decline in treatment success with increasing age.

[Nasolacrimal duct disorders in children. Part I. Anatomy, physiology and clinical signs]. / Schorzenia dróg lzowych u dzieci. Czesc I. Anatomia, fizjologia i objawy.

Congenital nasolacrimal duct obstruction (CLDO) is considered as common and onerous disorder present at infancy. Over 5% of infants have CLDO affecting one or both eyes. The symptoms of CLDO appear shortly after birth or during the first weeks of life. The main symptoms are: excessive and persistent watering, ropy mucous discharge in the conjunctival sac. In conservative treatment a lacrimal sac massage is proposed, though it is not always successful. Topical antibiotics are reserved only if secondary conjunctivitis occurs. Fortunately, most cases resolve spontaneously. However, sometimes nasolacrimal duct probing performed under local or general anesthesia is necessary.

[Nasolacrimal duct disorders in children. Part II. Treatment]. / Schorzenia dróg lzowych u dzieci. Czesc II. Metody leczenia.

Congenital nasolacrimal duct obstruction (CLDO) is considered as common and onerous disorder present at infancy. Over 5% of infants have CLDO affecting one or both eyes. The symptoms of CLDO appear shortly after birth or during the first weeks of life. The main symptoms are: epiphora, ropy, mucous discharge in the conjunctival sac. In conservative treatment a lacrimal sac massage is proposed, though it is not always successful. Topical antibiotics are reserved only if secondary conjunctivitis occurs. Fortunately, most cases resolve spontaneously. However, sometimes nasolacrimal duct probing performed under local or general anesthesia is necessary. Prognosis for probing decreases with the increasing number of probings and the age of the patient. In children, who have failed nasolacrimal duct probing, intubation or balloon catheter dilatation of the nasolacrimal system with or without silicone tubing should be considered. In the case of the upper sac obstructions one can use laser endoscopic dacryocystorhynostomy. If it is still not amenable to opening a endonasal endoscopic dacryocystorhinostomy (EESC-DCR), or traditional external dacryocysto-rhinostomy (EXT-DCR), should be performed.

[Ophthalmologic findings in child in the Cornelia de Lange syndrome]. / Objawy oczne u dziecka z zespolem cornelii de Lange.

PURPOSE: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, development delay, low birth weight, skeletal anomaly, hirsutism and various ophthalmologic and hearing findings. MATERIAL AND METHODS: We described ophthalmologic problems in 2-year-old girl. RESULTS: We have find arched eyebrows, long lashes, epiphora, ptosis, nystagmus, myopia, and fundus eye changes. CONCLUSIONS: We recommend early ophthalmologic examination in patients with Cornelia de Lange syndrome.