ECT For Psychotic Depression in Segawa Syndrome: Case Report in Dutch

[Successful treatment with ECT of comorbid psychotic depression in Segawa syndrome].

Gheysens T, Van Diermen L, Madani Y, Schrijvers D.Tijdschr Psychiatr. 2023;65(9):584-587.PMID: 37947471 Free article. Dutch.

The abstract is copied below:

We report the case of a 70-year-old man with Segawa syndrome who achieved full remission in three episodes of psychotic depression following electroconvulsive therapy (ECT). As maintenance drug therapy was unable to prevent relapse, maintenance ECT seemed necessary. Segawa syndrome is a rare metabolic disorder characterized by dystonia and possibly psychiatric symptoms. We highlight the psychiatric vulnerability of patients with Segawa syndrome and point out some considerations in treating comorbid psychiatric disorders.

The report is here.

And from the text (translated):

Segawa syndrome is a rare hereditary metabolic disorder. The original described syndrome concerns dystonia with diurnal variation. 1 The symptoms arise in childhood or during adolescence. This autosomal dominant hereditary disorder is caused by a mutation in the guanosine triphosphate cyclohydrolase I (GCH-I) gene. The GCH-I enzyme is necessary in the synthesis of tetrahydrobiopterin, which functions as a cofactor for the synthesis of the enzymes tyrosine hydroxylase and tryptophan hydroxylase. 2 The consequence of the enzyme deficit is reduced endogenous production of dopamine and serotonin, respectively. 1 Gene mutations that cause an enzymatic deficit elsewhere within the dopamine synthesis pathway, such as mutations in the gene for tyrosine hydroxylase or sepiapterin reductase, can also give a similar clinical picture. 2 People are now talking more broadly about dopa-responsive dystonias (DRD). In addition, there are also separate categories DRD-plus and DRD-look-alike. 3

The penetrance of the mutation in the GCH-I gene to Segawa syndrome has ranged from 35 to 100% in studies; women are affected 1.3 to 8.3 times as often as men. 4 The prevalence is 1 to 9 cases per 1 million. 5 Within the literature, there is disagreement surrounding the possibility that DRD may manifest as a manifestation of a psychiatric disorder. In this article we also discuss the available reporting on psychiatric disorders in patients with DRD.

The treatment of the motor symptoms is with levodopa or levodopa/carbidopa and is very effective, although residual symptoms or levodopa-induced dyskinesia rarely occur. This dyskinesia may resolve spontaneously or improve under treatment with amantadine. 2 Based on our experience, which we explain in the clinical case description, and the available case reviews in the literature, there are specific points of attention in the treatment of depressive or psychotic symptoms in these patients.

Here is an interesting case report. I was unaware of Segawa syndrome, and glad to be educated. The review of psychiatric comorbidities with the syndrome is interesting, although one must keep in mind that psychotic depression is a very common illness. 

Kudos to our Lowcountry colleagues for this helpful case presentation.