Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
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İsmail Hakkı Akbeyaz
,
Olcay Ünver
,
Gülten Öztürk
,
Burcu Öztürk Hişmi
,
Akif Ayaz
,
Kürşad Aydın
and
Dilşad Türkdoğan
Abstract
Objectives
Sepiapterin reductase deficiency (SRD) is a rare dopa-sensitive neurotransmitter disorder caused by autosomal recessive mutations in the sepiapterin reductase gene. The triad of paroxysmal stiffening, oculogyric crises, and hypotonia are highly suggestive in some patients. However, in other patients, the clinical picture may be nonspecific and remain under-recognized and misdiagnosed as cerebral palsy.
Case presentation
We present a nine-month-old boy who initially presented with hypotonia and developmental delay, diagnosed as vitamin B12 deficiency. Upon he did not respond to vitamin replacement treatment, he was diagnosed with SRD by whole-exome sequencing (WES). The boy improved dramatically under treatment with L-dopa, 5-hydroxytryptophan and BH4.
Conclusions
We aim to emphasize that SRD can present with nonspecific symptoms, leading to a diagnostic delay for this rare but treatable disease. Moreover, our case is the first to demonstrate the clinical benefit of BH4 add-on treatment. Early intervention is crucial for good outcome and neurodevelopment.
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Research ethics: Not applicable.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interests: None declared.
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Research funding: None declared.
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Data availability: Not applicable.
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Employment or leadership: None declared.
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Honorarium: None declared.
References
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Articles in the same Issue
- Frontmatter
- Original Articles
- Effects of orlistat on body mass index and serum lipids in overweight and obese adolescents: a meta-analysis
- Psychological and behavioral assessments in girls with idiopathic central precocious puberty
- The effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations
- Laparoscopic adrenalectomy in children with diverse adrenal pathologies: the impact of pre-operative imaging in decision making process
- Short- to medium-term follow-up of normoponderal children and adolescents with subclinical hypothyroidism: a retrospective study of the last 15 years
- Newborn screening follow-up in Bavaria: height and weight in paediatric patients with congenital adrenal hyperplasia
- Patterns and determinants of serum amylase, lipase concentrations in Indian adolescents and youth with type 1 diabetes
- Pediatric Graves’ disease in Argentina: analyzing treatment strategies and outcomes
- Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother
- Short Communication
- Does clonidine stimulate copeptin in children?
- Case Report and Review of the Literature
- Sialidosis type 1 in a Turkish family: a case report and review of literatures
- Case Reports
- Central precocious puberty in a toddler with hypothalamic hamartoma
- Autosomally dominantly inherited isolated gonadotropin deficiency via maternal assisted reproduction due to SOX10 mutation
- Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiency
