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Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report

Stella Mouskou

Stella Mouskou

Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Mouskou, Stella
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Katherine Anagnostopoulou

Katherine Anagnostopoulou

Molecular Genetics Department, Genomedica S.A. Genetics LaboratoryPiraeus, Greece
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Anagnostopoulou, Katherine
, 
Danae Bikouli

Danae Bikouli

Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Bikouli, Danae
, 
Efstathia Paramera

Efstathia Paramera

Neolab SA, Medical LaboratoryAthens, Greece
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Paramera, Efstathia
, 
Evangelos Papakonstantinou

Evangelos Papakonstantinou

Neolab SA, Medical LaboratoryAthens, Greece
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Papakonstantinou, Evangelos
, 
Anastasia Korona

Anastasia Korona

Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Korona, Anastasia
, 
Vasiliki Ziaka

Vasiliki Ziaka

Department of Neurology, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Ziaka, Vasiliki
, 
Mirsini Mavrikou

Mirsini Mavrikou

Department of Pediatrics, ‘P. & Aglaia Kyriakou’ Children’s HospitalAthens, Greece
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Mavrikou, Mirsini
 und 
Anastasia Skouma

Anastasia Skouma

Newborn Screening Department, Institute of Child HealthAthens, Greece
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Skouma, Anastasia
  
05. Sept. 2022
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report's Cover Image
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Artikel-Kategorie: Case report
Online veröffentlicht: 05. Sept. 2022
Eingereicht: 14. Feb. 2022
Akzeptiert: 01. Aug. 2022
DOI: https://doi.org/10.2478/joepi-2022-0003
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© 2022 Stella Mouskou, published by Sciendo
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Figure 1.

Magnetic resonance imaging of the brain. T2-weighted and FLAIR sequences with symmetrical hyperintensities of globus pallidi mainly in the anterior part (arrowhead) and delayed progress of the myelination with regards to the patient’s age.
Magnetic resonance imaging of the brain. T2-weighted and FLAIR sequences with symmetrical hyperintensities of globus pallidi mainly in the anterior part (arrowhead) and delayed progress of the myelination with regards to the patient’s age.

Figure 2.

EEG at the age of diagnosis, showed low voltage spikes mainly in the frontal area.
EEG at the age of diagnosis, showed low voltage spikes mainly in the frontal area.

Figure 3.

Chromatogram of urine organic acids of the patient with SSADH, by Gas Chromatography-Mass Spectrometry. The presence of the diagnostic metabolites 4-hydroxy-butyic, 3,4-dihydroxybutyric acid and 2,4-dihydroxybutyric acid confirm the characteristic pattern of the disease.
Chromatogram of urine organic acids of the patient with SSADH, by Gas Chromatography-Mass Spectrometry. The presence of the diagnostic metabolites 4-hydroxy-butyic, 3,4-dihydroxybutyric acid and 2,4-dihydroxybutyric acid confirm the characteristic pattern of the disease.

Figure 4.

Electropherograms depicting the parental heterozygosity as well as the patient’s homozygosity for the pathogenic variant.
Electropherograms depicting the parental heterozygosity as well as the patient’s homozygosity for the pathogenic variant.

Figure 5.

Interictal sleep EEG at the age of 2 ½ years old, with intermittent rhythmic delta activity (1–2Hz, up to 250 μV) mainly in parietal-occipital area bilaterally.
Interictal sleep EEG at the age of 2 ½ years old, with intermittent rhythmic delta activity (1–2Hz, up to 250 μV) mainly in parietal-occipital area bilaterally.

Figure 6.

Interictal sleep EEG, at the age of 4 years old, shows low voltage spikes mainly in frontal-temporal area bilaterally.
Interictal sleep EEG, at the age of 4 years old, shows low voltage spikes mainly in frontal-temporal area bilaterally.

Values of the metabolites of the child with SSADH_ Pathological values are shown in bold

Metabolite Biological fluid/analysis Value Reference value
4-hydroxy-butyric Urine/Organic acids 688.7 mmol/mol creatinine n.d.1
3,4- dihydroxybutyric Urine/Organic acids 180 mmol/mol creatinine n.d.1
2,4-dihydroxybutyric Urine/Organic acids 30 mmol/mol creatinine n.d.1
3-hydroxy-propionic Urine/Organic acids 149.4 mmol/mol creatinine 1.0–36.0 mmol/mol creatinine
2-hydroxy-glutaric2 Urine/Organic acids 76.8 mmol/mol creatinine 0.0–15.0 mmol/mol creatinine
glutaric2 Urine/Organic acids 36.2 mmol/mol creatinine 0.0–5.3 mmol/mol creatinine
glycine Plasma/AminoacidsCSF/Aminoacids 289.0 μmol/L4.0 μmol/L 107.0–343 μmol/L3.7–7.6 μmol/L
5-hydroxy-indoloacetic CSF/ Biogenic amines 184.0 nmol/L 170.0–490.0 nmol/L
homovanillic CSF/ Biogenic amines 630.0 nmol/L 344.0–906.0 nmol/L
3-ortho-methyldopa CSF/ Biogenic amines 20.0 nmol/L 4.0–50.0 nmol/L
5-hydroxy-tryptophan CSF/ Biogenic amines 7.0 nmol/L 1.6–15.0 nmol/L
neopterin CSF/ Pterins 31.0 8.0–43.0 nmol/L
biopterin CSF/ Pterins 41.0 8.0–54.0 nmol/L
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