Antun Sasso

Secular Trend in the Development of Permanent Teeth in a Population of Istria and the Littoral Region of Croatia

The study evaluated secular trends in dental development during a period of 30 years, correlation between dental and chronological age in Istria and the littoral region of Croatia. The sample consisted of 1000 panoramic radiographs of children, aged 6–16 years (mean 10.0 ± 1.8), taken in the period 1977–1979 (N = 500; 243 females) and 2007–2009 (N = 500; 299 females). Dental age was assessed according to Demirjians method. Correlation between chronological and dental age was linear, positive, high, and statistically significant in both periods and genders, ranging from 0.73 to 0.86. Dental age was underestimated when compared to chronological age by 1 year on average, more 30 years ago (−1.35 ± 1.17) than today (−0.63 ± 1.09), less for girls (−0.80 ± 1.22) than boys (−1.21 ± 1.10). A statistically significant positive secular trend in acceleration of dental development was present of 0.72 years during the 30‐year period and was more significant in girls than boys (0.83‐ and 0.51‐year acceleration).

Mowat–Wilson syndrome: the clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816)

IntroductionMowat–Wilson syndrome is a congenital syndrome caused by a defect of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22–q23. The genotype–phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation.Case reportThis report is about one new patient from Croatia with the typical phenotype. Molecular genetic studies showed the novel mutation in ZFHX1B (exon 8: c.2372del C; p.T791fsX816). This mutation has not been reported before. The literature is reviewed.ConclusionMowat–Wilson syndrome is a newly described congenital syndrome and should be considered in any individual with characteristic facial features and mental retardation in associations with congenital malformations.

Rijetka Dravet-like – epileptička encefalopatija s novom mutacijom gena PCDH19

Mutacija gena PCDH19, koji kodira protokaderin 19 na kromosomu Xq22, rezultira epilepickim sindromom s pocetkom napadaja u dojenackoj dobi, s blagi

P23 – 2520: Clinical or (and) genetic diagnosis of Dravet syndrome: Report of two cases

We report two boys, first aged 2.5 years and second aged 13 months. The first boy was hospitalized for the first time at the age of 8 mo due to generalized seizure. The other boy is now followed-up for 5 months, first time at the age of 8 mo had convulsive status epilepticus during fever. Brain MRI and interictal EEG in both children were normal. Other couses of seizures were excluded. The clinical progress in the first boy was marked by the development of focal seizures, with no unilateral domination, mainly in the form of status epilepticus triggered by fever. Ictal EEG showed paroxysmal brain activity correlated with clinical hemiconvulsions. He had pharmacoresistant epilepsy. Later, form of seizures has changed, with dominant atypical absence seizures. Psychomotor evaluation at the age of 2 years revealed mild deterioration. We performed genetic testing for Dravet syndrome. The mutation of SCN1A and SCN2 gene was negative. Analysis for GABRA1, GABRG2 and STXBP1 mutations is in progress. The clinical progress in second boy was marked by second status epilepticus during fever after we performed SCN1A gene mutation which is positive. The boy is now 13 months old, since now he had 6 episodes of status epilepticus, without other type of seizures. His interictal EEG and psychomotor development were normal. Clinical progress of the disease in the first boy is complient with Dravet syndrome and could be included among the 30% of patients without the mutation of SCN1A gene. Second boy has good clinical course after 5 mo follow-up, despite of the SCN1A gene mutation. Early diagnosis of Dravet syndrome is important for the avoiding unnecessary examinations and false therapies as well as for genetic counselling. In both children remains an open question of using specific and/or preventive therapy with stiripentol as well as long-term prognosis.

P13 – 2298: PCDH19 related epileptic encephalopathy in a 9-year-old girl – Case report

Introduction Mutation in PCDH 19 gene, encoding prothocadherin 19 on chromosome Xq22, results in an epileptic syndrome of seizure onset in infancy, mild to severe intellectual impairment with or without autistic features. This disorder demonstrates an unusual pattern of X-linked inheritance, affecting heterozygous female but sparing hemizygous male individuals. The underlying responsible mechanism is considered to be a “cellular interference”. There is a wide clinical spectrum of seizures, generally starting in infancy or early childhood. A portion of patients manifests a phenotype resembling a Dravet syndrome. The seizures mostly occur in brief clusters even at mild to moderately elevated temperature. In initial course of the disease the seizures become relatively resistant to antiepileptic drugs. However, as the disease progresses, the frequency of seizures and their pharmacoresistance tends to decrease. There may be behavioral difficulties such as autistic, obsessive or aggressive features. Objective is to show the clinical features of PCDH19 related epilepsy in a 9-year-old girl with a focus on early disease characteristics and treatment efficacy. Patient and methods A 9-year-old girl from early childhood suffering and treated of resistant epilepsy that was clinically presented with a series of focal motor seizures accompanied by fear and screaming. Repeated interictal waking and sleeping EEGs, as well as high resolution brain MRI (3T) was normal. Analysis of cerebrospinal fluid excluded inflammatory diseases of the CNS. The rare metabolic diseases with epileptic seizures were excluded by metabolic tests. After the first seizure phenobarbital was recommended, and after recurrence there was a therapy with multiple combinations of various antiepileptic drugs, none of which was effective. Further treatment included a genetic analysis which found mutation PCDH19Xq22.1. The therapy included perampanel with topiramate. Conclusion The authors have the intention to warn to this epileptic encephalopathy that affects only female children and emphasize its importance in the differential diagnosis of uncontrolled epileptic syndromes associated with febrile conditions.