Primary familial basal ganglia calcification presented with depression and obsessive–compulsive symptoms: A case report
Year: 2020
Type: article
Study design: Case Report
Abstract: Primary familial basal ganglia calcification (PFBGC) is a rare, genetically dominant neurodegenerative disorder characterized by diverse symptoms, including neuropsychiatric manifestations.1-4 The hallmark of this condition is the presence of symmetric calcium deposits in the basal ganglia and other brain areas,5 detectable by head computed tomography (CT) scan.5 The psychiatric presentation may include psychosis,6 depressive symptoms, obsessive–compulsive symptoms7 and impulsive symptoms.5 PFBGC leads to significant disability8 and in most cases the age of onset is in the fourth or fifth decade of life; however, earlier onset has been described.7, 9 A 58-year-old right-handed black woman from Maputo, Mozambique was referred to Mavalane General Hospital for evaluation and treatment of depressive symptoms with inability to carry out her daily activities. The patient was assessed using the Mini International Neuropsychiatric Interview for DSM-5 for psychiatric diagnosis and the Mini Mental State Examination (MMSE) to evaluate cognitive function. Informed consent was obtained from the patient for the purpose of this publication. There was no family history of psychiatric disorder. The patient was not formally literate and was dedicated only to household activities. The patient presented with a 2-year history of sadness, crying, loss of interest in daily activities, and exhibiting compulsive and obsessive behavior characterized by frequent daily hand-washing and showers. Laboratory tests were within normal limits: hemoglobin of 12.8 g/dL, hematocrit of 40%, white blood cells of 11.28 × 103 cell/mm3, lymphocytes 19.5%, neutrophils 74.2%, liver function tests were normal, serum ionized calcium of 2.33 mmol/L, potassium level of 3.7 mmol/L, phosphate inorganic of 1.06 mmol/L, thyroid stimulating hormone of 0.33 μIU/mL, T3 of 2.7 pmol/L, T4 of 14.8 pmol/L, and parathyroid hormone of 63 pmol/L. Screenings for substance use were negative. Testing for HIV 1/2- infection and Plasmodium falciparum were both negative. No abnormal findings were detected in stool tests. CT scan showed extensive bilateral calcifications in the basal ganglia, thalamus, and cerebellum (Fig. 1 ). Neuropsychological evaluation revealed good interpersonal relatedness with intact ability to understand and answer questions, with appropriate behavior and good eye contact. Upon examination, the patient demonstrated some anxiety, slowed speech dysarthria, and rest tremor. She reported depressed mood and complained of obsessions and compulsions regarding frequent hand- and body-washing. No hallucinations or delusions were observed or reported by the patient or caregivers. She scored 20 on the MMSE, with impairment in cognition in terms of short-term memory, attention, and concentration. Based on these clinical findings, the diagnosis of PFBGC was made and the patient was medicated with fluoxetine 20 mg and referred to physiotherapy. After a month on treatment, the patient was assessed and showed partial improvement in mood, obsessive–compulsive symptoms, and cognition with increase from 20 to 23 on the MMSE. We evaluated the five children of the patient. Three of them showed bilateral basal nuclei calcification on CT scan with no symptoms. In clinical practice, depression is commonly comorbid with obsessive–compulsive disorder.10 In our case, the patient presented also with cognitive impairment, which led to the performance of the CT scan. The CT examination is required to exclude brain abnormalities. Furthermore, for the diagnosis of PFBGC, it is also required to obtain the genetic evidence,5 and exclusion of infectious, metabolic, toxic, and traumatic causes. In our case, these other causes were excluded and genetic relatedness was established.5 Use of antidepressants has been described to improve depressive and obsessive–compulsive symptoms in PFBGC7 and our patient also responded well to fluoxetine. To our knowledge, this is the first report of PFBGC in sub-Saharan Africa and the first with co-occurring depression and obsessive– compulsive symptoms. This case highlights the need to consider PFBGC in patients with depression and obsessive–compulsive symptoms and confirms its occurrence in Mozambique. The strength of this case study is related to the evidence of occurrence of PFBGC in sub-Saharan Africa. Rare cases are not commonly diagnosed or considered by clinicians due to scarcity of these kinds of cases reported in the literature from resource-limited settings. Furthermore, when cases like this are considered, the confirmation becomes challenging because of scarce biomedical and imaging technology. The absence of genetic studies due to lack of local capacity to perform them and financial constraints preventing samples from being sent abroad to test limits somehow this report. In conclusion, PFBGC should be considered as part of the differential diagnosis for depression and obsessive–compulsive symptoms in low-income settings, especially when there is co-occurring neurocognitive impairment. Treatment with antidepressants should be useful in improving depression and obsessive–symptoms in these cases, despite the underlying organic cause. Nothing to declare.
DOI: 10.1111/pcn.13021
Language: English
Subfield: Neurology
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W3021036101