Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome

Çelik, Muhittin; Ipek, Mehmet Sah; Özgün, Nezir; Akdeniz, Osman; Tüzün, Heybet; Bülbül, Ali

doi:10.5812/ijp.58924

Cited by 2 publications

(3 citation statements)

References 22 publications

(52 reference statements)

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“…Affected individuals with ZSD manifest with severe neurological impairment, respiratory muscle weakness, and airway aspirations. Celik et al reported seven infants with Zellweger disease who were admitted to neonatal intensive care unit with respiratory distress, hypotonia, and/or convulsions . Both of our patients with Zellweger syndrome also presented with similar respiratory manifestations.…”

Section: Discussionsupporting

confidence: 61%

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Respiratory manifestations in inherited metabolic diseases: 6‐year single‐center experience

İlarslan

Günay

Çobanoğlu

et al. 2019

Pediatric Pulmonology

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Objectives We aimed to call attention to respiratory system manifestations which occur in the course of many inherited metabolic diseases (IMD), and present as the leading cause of death. Materials and Methods We retrospectively reviewed the diagnosis, treatment, and outcome of patients evaluated at our hospital between June 2012 and June 2018 with a diagnosis of IMD and accompanying respiratory manifestations. Results A total of 50 children (29 [58%] male, 21 [42%] female) with IMD and respiratory manifestations were defined. Disorders of intracellular metabolism (n = 33, 66%) formed the majority, followed by intoxication type metabolic disorders (n = 9, 18%) and energy metabolism disorders (n = 8, 16%). The most frequent respiratory symptoms were snoring (20, 40%), tachypnea (16, 32%) and wheezing (14, 28%). Physical examination findings were signs of respiratory distress (n = 28, 56%), crackles (n = 24, 48%), thoracic deformity (n = 23, 46%), decreased breath sounds (n = 17, 34%), rhonchus (n = 17, 34%), wheezing (n = 17, 34%) and stridor (n = 10, 20%). Major respiratory manifestations were chronic airway aspiration (n = 23, 46%), upper airway obstruction (n = 23, 46%), and recurrent pneumonia (n = 18, 36%). Twenty‐three 23 patients (46%) experienced endotracheal intubation, 9 patients (18%) required whole‐house mechanical ventilation and tonsilloadenoidectomy was performed in 7 patients (14%). Overall survival rate was 70% (n = 35) in a median follow‐up period of 2.36 (0.05‐5.86) years. Conclusions Respiratory system manifestations of IMD strongly relate with increased morbidity and mortality. Therefore, prompt diagnosis and correct intervention of respiratory complications with a multidisciplinary team including pediatric metabolic diseases specialists, pulmonologists, otorhinolaryngologists, physiotherapists, and anesthesiologists are crucial to prevent progression and irreversible damage.

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Section: Discussionsupporting

confidence: 61%

“…30 Galactosialidosis is a LSD characterized by fetal hydrops, congenital heart defects, hepatosplenomegaly, complex neurological impairment, and skeletal abnormalities. 31 34 Both of our patients with Zellweger syndrome also presented with similar respiratory manifestations.…”

Section: Discussionmentioning

confidence: 52%

Respiratory manifestations in inherited metabolic diseases: 6‐year single‐center experience

İlarslan

Günay

Çobanoğlu

et al. 2019

Pediatric Pulmonology

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“…EIMEE is an umbrella term for many channelopathies and IEM, such as D-glyceric acidemia, propionic aciduria, molybdenum cofactor deficiency, pyridoxine deficiency, methylmalonic acidemia, sulfite oxidase deficiency, Menkes disease, and Zellweger syndrome. Within this group of channelopathies, we found the following [50][51][52][53][54][55][56].…”

Section: Dee Presents With Predominant Myoclonic Seizuresmentioning

confidence: 81%

Could Neonatal Electroclinical Syndromes Orchestrate Diagnosis and Treatment?

Andrade Machado

2024

J Exp Neurol

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Introduction: Neonatal seizures are associated with neurodevelopmental impairments. Implementing long-term video-EEG monitoring in the neonatal intensive care unit became the gold standard for seizure diagnosis. During the neonatal period, seizures can be associated with an acute brain insult called acute symptomatic seizures (ASS) or being part of neonatal epilepsy that may have a structural, metabolic, or genetic cause. This distinction impacts patient workup and management. Objectives: To facilitate a guide to differentiate ASS from neonatal epilepsy, and to correlate different electroclinical seizure patterns with a specific etiology. Methods: A narrative review was performed. MEDLINE, Embase, and PubMed were used to gather data for this narrative review. The following keywords were applied to focus on original research and case reports: epileptic encephalopathy, developmental Epileptic encephalopathy and neonatal seizures, neonatal genetic encephalopathies, Otahara syndrome, neonatal channelopathies, and neonatal seizure classification. Conclusions: Strict electroclinical semiology is the backbone for diagnosing neonatal seizures. The EEG and ictal semiology help with the diagnosis and the treatment. The neonatal seizure classification should be expanded to include the EEG pattern. Lumping them in a better classificatory system will prevent unnecessary and hazardous medication.

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Clinical Diagnosis, Biochemical Findings, Genetics and Incidence of Zellweger Syndrome

Cited by 2 publications

References 22 publications

Respiratory manifestations in inherited metabolic diseases: 6‐year single‐center experience

Respiratory manifestations in inherited metabolic diseases: 6‐year single‐center experience

Could Neonatal Electroclinical Syndromes Orchestrate Diagnosis and Treatment?

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