Case of Seckel Syndrome in a 9-month-old Girl

Andreas Dhymas Dhyna Martha Kelana; Gusti Ayu Trisna  Windiani; Made  Arimbawa; Gusti Agung Ngurah Sugitha  Adnyana; Made Darma  Yuda; Ni Luh Sukma Pratiwi  Murti; Soetjiningsih  Soetjiningsih

doi:10.3889/oamjms.2023.10988

Authors

Andreas Dhymas Dhyna Martha Kelana Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali, Indonesia
Gusti Ayu Trisna Windiani Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali, Indonesia
Made Arimbawa Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali, Indonesia
Gusti Agung Ngurah Sugitha Adnyana Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali, Indonesia
Made Darma Yuda Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali, Indonesia
Ni Luh Sukma Pratiwi Murti Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali, Indonesia
Soetjiningsih Soetjiningsih Department of Child Health, Medical School, Udayana University, Sanglah Hospital, Denpasar, Bali, Indonesia

DOI:

https://doi.org/10.3889/oamjms.2023.10988

Keywords:

seckel syndrome, microcephaly, Bird-headed like appearance

Abstract

INTRODUCTION: Seckel syndrome is a rare case. It belongs to an autosomal recessive disorder. It commonly leads to osteodysplastic, microcephaly, and dwarfism, which are proportional to prenatal onset. Microcephaly, bird-headed-like appearance, and mental retardation are common dysmorphic in the future. This case report present a patient with Seckel syndrome and this case will be discussed comprehensively.

CASE REPORT: A patient 9-month-old girl came to the hospital with a chief complaint of growth disturbance. Her growth was not the same as her peer. She was stunted and failed to thrive. Microcephaly and a dysmorphic face (bird-headed) appeared with a broad face, prominent forehead, large eyes, prominent curved nose, and micrognathia were found in physical examination. Her organ was in normal condition. According to the radiology examination, the bone age was appropriate for the age of a newborn (<3 months). Patient had global developmental delay. Based on clinical manifestation patient can be witnessed with Seckel syndrome, to confirm the diagnosis chromosomal test is needed. There is no specific treatment. Management for the patient was growth and developmental intervention.

CONCLUSION: Seckel syndrome is a rare disease. The diagnosis was challenging and sometimes could miss diagnosed with another syndrome. In this case, the diagnosis was made by clinical presentation and laboratory examination. There was no specific treatment. We assess the patient with Seckel syndrome. A gene or chromosome examination is needed. Meanwhile, the examination was limited and need a high cost. Educating the family about the patient’s condition has been done.

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