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Evaluation of clinical, laboratory, and imaging findings of patients with the diagnosis of Pontocerebellar Hypoplasia: A multicenter national study

Objectives: Pontocerebellar hypoplasia (PCH) describes a rare, heterogeneous group of neurodegenerative/neurodevelopmental disorders mainly with severe hypoplasia or atrophy of cerebellum and pons, and also variable involvement of supratentorial structures. This study aimed to discuss the clinical, laboratory, and neuroimaging findings with the diagnosis of PCH confirmed by genetic analysis from 15 different centers in Turkey. Methods: We retrospectively collected the data of PCH patients. Age of diagnosis, gender, consanguinity, pregnancy duration, occipital frontal circumference at the examination, psychomotor development, seizure, neurological findings, neuroimaging features, other system findings, biochemistry tests, metabolic investigations, dysmorphic findings, and, genetic analysis of the patients was evaluated. Results: A total of 51 patients with PCH were included in the study, 21 were female (41%) and 30 (59%) were male. We identified 17 distinct PCH-related genes: CLP1 (14), EXOSC3 (6), AMPD2 (5), HEATR5B (3), RARS2 (3), CASK (3), TSEN54 (2), MINPP1 (2), TOE1 (2), TBC1D23 (2), TTC1 (2), EXOSC8 (2), PLCO (1), TSEN2 (1), SEPSECS (1), CHMP1A (1), and VLDLRL (1). The most common mutation was homozygous (88.2%). The range of consanguinity was 76.5% and pregnancy at term was 82.4%. Microcephaly was found in 70.6%. Psychomotor retardation with 98%, abnormal neurological findings with 100% (tetraplegia most common in 66.7%), seizure with 55%, normal biochemistry and metabolic investigations with 80.4%, and dysmorphic findings with 45% were determined. Conclusion: Although clinical manifestation is variable and etiology is heterogeneous in PCH, the diagnosis of PCH is substantial for offering suitable prenatal genetic testing
Keywords: Pontocerebellar hypoplasia, psychomotor retardation, microcephaly.

Dilek Cavusoglu

Turkey

Gulten Ozturk
Marmara University School of Medicine
Turkey

Dilsad Turkdogan
Marmara University School of Medicine
Turkey

Semra Hiz Kurul
Dokuz Eylul University
Turkey

Uluc Yis
Dokuz Eylul University
Turkey

Mustafa Komur
Mersin University Faculty of Medicine
Turkey

Faruk Incecik
Cukurova University Faculty of Medicine
Turkey

Olcay Unver
Marmara University School of Medicine
Turkey

Cengiz Dilber
Kahramanmaras Sutcu Imam University
Turkey

Gulen Gul Mert
Cukurova University Faculty of Medicine
Turkey

Cagatay Gunay
Dokuz Eylul University
Turkey

Gamze Sarikaya Uzan
Dokuz Eylul University
Turkey

Ozlem Ersoy
Mersin University Faculty of Medicine
Turkey

Serdar Mermer
Mersin University Faculty of Medicine
Turkey

Gokcen Oz Tuncer
Ondokuz Mayıs University
Turkey

Olcay Gungor
Pamukkale University
Turkey

Gul Demet Kaya Ozcora
Faculty of Health Sciences, Hasan Kalyoncu University
Turkey

Ugur Gumus
Dr Ersin Arslan Training and Research Hospital
Turkey

Ozlem Sezer
Samsun Training and Research Hospital
Turkey

Gokhan Ozan Cetin
Pamukkale University
Turkey

Turkan Sahin
Bezmialem Vakif University
Turkey

Arzu Yilmaz
Ankara Training and Research Hospital
Turkey

Gurkan Gurbuz
Tekirdag Namik Kemal University
Turkey

Ahmet Cevdet Ceylan
Ankara City Hospital
Turkey

Serdar Ceylaner
Intergen Genetic Research Center
Turkey

Joseph G Gleeson
Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California
United States

Dilara Fusun Icagasioglu
Bezmialem Vakif University
Turkey

F. Mujgan Sonmez
KTU Medical Faculty, Retired Lecturer, Trabzon, Vice President of Neuromuscular Research Association , Ankara
Turkey

 

 


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