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Absence of Septum Pellucidum and Gray Matter heteropia in a patient with schizoaffective disorder and intractable epileptic seizures: a case report.

Abstract

Absence of the septum pellucidum is a congenital defect with a wide spectrum of clinical presentations depending, in part, on whether it occurs with other brain abnormalities. Here, we present a case of a patient with an absent septum pellucidum who was diagnosed with schizoaffective disorder. Mood disorders and psychotic features may be a manifestation of agenesis of the septum pellucidum due to its potential role in the limbic system. The possibility of midline CNS abnormalities should be considered in psychiatric patients presenting with long-term neurological diseases due to the high likelihood of concurrent congenital abnormalities.

Introduction

The septum pellucidum (SP) is a fine membranous midline structure that serves to separate the frontal horns of the lateral ventricles. Consisting of two leaflets formed of both gray and white matter, it is located inferior to the corpus collosum and runs anterior and superior to the fornix. (1,2) Due to its unique position, SP developmental abnormalities have a potentially deleterious effect on the overall formation and function of the brain and, in particular, the limbic system. (3) Previous studies have reported variations that may occur during SP formation. These include: isolated agenesis of the SP, (4,5) malformations of the SP with other midline structural abnormalities, (6-8) and, more frequently, the persistence of a potential space between the SP leaflets known as the cavum septum pellucidum (CSP). (9) Two particularly striking features have been recognized in patients with abnormalities in the SP: (1) SP pathology is frequently accompanied by other brain malformations and, more significantly, (2) psychotic disorders such as schizophrenia are commonly reported in individuals with SP defects. (10-15)

We describe a patient diagnosed with schizoaffective disorder with the distinction of having an absent SP and gray matter heteropia.

Case 1

A 30-year-old Caucasian female was admitted to our inpatient psychiatric unit with severe depression and active psychosis in the form of paranoia and command auditory hallucinations. Medical history was obtained from the patient and a reliable collateral historian, the patient's mother. Both reported that she had been increasingly depressed for the past seven months during which she was increasingly isolative, believing devils wanted to harm her, and hearing derogatory voices telling her to kill herself.

The patient reported onset of intermittent auditory hallucinations accompanied by paranoia during childhood. At times the voices would command her to self-harm and the patient engaged in cutting behavior as a result. Episodic depressive symptoms reportedly began during adolescence but worsened in early adulthood following divorce from a 3-year marriage. Hallucinations continued intermittently outside of mood episodes but were described as generally benign. Her past medical history was significant for cerebral palsy and intractable seizures that began during her teen years. Seizures were described as both partial (experienced as drawing of the left arm and occurring up to several times per week) and generalized tonic-clonic though she reportedly had not experienced a generalized seizure in several years.

She was prescribed ziprasidone 60mg twice daily, duloxetine 90mg daily, oxcarbazepine 900mg twice daily, and zonisamide 200mg twice daily by her outpatient providers.

Family medical and psychiatric histories were unobtainable as the patient was adopted shortly after birth. Mother reported that cognitive developmental milestones were normal but motor milestones were delayed due to cerebral palsy that manifested as mild left-sided hemiparesis. She graduated high school, completed 2 years of college, and married one time for 3 years prior to divorcing. She lived with her adopted parents and was an only child. The patient denied any history of alcohol, illicit, or prescription drug abuse.

Upon initial examination the patient was alert and engaged appropriately in the interview. She was dressed casually but neatly and sat across from the examiner with arms crossed. Her eye contact was sporadic and her speech slow, quiet, and at times difficult to hear. She described her mood as "depressed" and her affect appeared dysphoric. Thought process was mostly linear but at times tangential. She described active multiple auditory hallucinations that commanded her to kill herself and suggested multiple means (e.g., shoot herself, hang herself, etc.). She denied any intent to act on these thoughts at the time of her admission. She voiced delusional paranoia and believed the voices were possibly demonic. Concentration was grossly intact by assessment as she was able to complete serial sevens without error. Her immediate and recent memory was also unimpaired as she was able to recall 3 of 3 items immediately and at five minutes. Neurological exam revealed left-sided upper and lower extremity weakness rated 4/5 with right-side 5/5. Sensation was grossly intact bilaterally. She walked with a spastic gait circumducting her left leg.

TSH and free T4 levels, CBC with differential, urinalysis, electrolytes, kidney and liver function tests were all within normal limits. Serum pregnancy test was negative and urine drug screen was pan-negative. An EEG demonstrated wide sharp wave discharges originating from the right parietal and left frontotemporal regions. A previous head CT scan and MRI showed an absent SP (Figure 1A, B) and gray matter heteropia (Figure 1C) which partly coincided with the area of abnormal focus observed on EEG.

Upon admission, she met Diagnostic and Statistical Manual of Mental Disorders, 5th Edition criteria for schizoaffective disorder. She was cross-titrated from ziprasidone to risperidone 1mg twice daily for her psychotic symptoms. Duloxetine 90mg daily was continued unchanged for her depression. Over the course of her 10-day hospitalization her delusional paranoia improved and she reported resolution of auditory hallucinations and suicidal thoughts. Although maintained on her anti-seizure medications during her stay, the patient experienced a partial-seizure episode. At her two-week outpatient follow-up, she continued to report improved mood and no psychotic symptoms since discharge.

Discussion

The septum pellucidum is a single leaflet formed embryologically by fusion of two laminae and serves to separate the lateral ventricles. As a midline structure between the corpus callosum and the fornix, it allows for communication between higher order diencephalic structures and the limbic system. Developmental abnormalities of the SP have been associated with the presence of psychotic illnesses such as schizophrenia. Some of the different variations of the SP found in psychotic patients include: isolated agenesis of the SP, an absent SP with other brain malformations, or a failure of the two leaflets to fuse CSP has been the most common variation described as a prominent feature in psychotic patients. (10-18) There is evidence that suggests a correlation between the size of the cavum and the presence of psychotic features. (16) At the same time, the importance of CSP in mood disorders such as major depression has also been studied. Shioiri et al. (12) found no increase in prevalence of CSP in patients with major depression versus controls. Similarly, Takahashi et al. (19) found no differences in the length of the CSP in patients with major depression, both current and abated, versus controls. However, a more recent study with a larger sample size looking at midline brain abnormalities in psychotic and mood disorder patients found CSP, ranging from narrow to wide spaced leaflets, to be a recurring abnormality. (15) This suggests that psychotic and mood disorders may share some neurobiological associations, possibly via the limbic system.

[FIGURE 1 OMITTED]

Although there has been some interest in the role of CSP in psychosis and mood disorders, relatively little is known regarding the patients who have an absent SP. Supprian et al (4) and Wolf et al (18) have reported cases of patients with isolated absent SP that had a known history of schizophrenia and no underlying mood disorders. Agenesis of the SP rarely occurs alone as it is usually accompanied by other brain malformations. Some commonly reported malformations include: septooptic dysplasia (SOD), schizencephaly, and holoprosencephaly. (6,20)

Our patient presented with agenesis of SP along with gray matter heteropia. Gray matter heteropia occurs due to erroneous migration of embryological cells and is classified into different categories depending on where in the brain it occurs. (21) It commonly presents, as it did in our patient, with neurological and developmental sequelae such as seizures and cerebral palsy. Interestingly, there has been a published case report of a patient with absence of SP and gray matter heteropia. (22) However, the patient in that case report only presented with seizures and no psychotic or mood features.

To our knowledge, this is the first report to describe a case of schizoaffective disorder in a patient with agenesis of SP and gray matter heteropia. Psychiatric illnesses to include mood and psychotic disorders are understood to be complex and typically multifactorial in their development and presentation. It is therefore unlikely that SP abnormalities are singularly responsible for the development of psychopathology for most patients with co-existing conditions. In addition, disorders of the SP often co-occur with other neurological conditions that are themselves known to be highly co-morbid with psychiatric disturbance making a causal relationship very difficult to establish. However, the SP does relay sensory information between limbic areas involved in consciousness, attention and arousal, sleep, and emotional memory. Given the considerable overlap of function and psychiatric symptomatology it seems reasonable to conclude that abnormalities of the SP are likely to be contributors to the development of mental dysfunction in certain affected individuals.

Further studies are required to solidify our understanding of the complex relationship between midline brain malformations involving the limbic system and later development of mood and psychotic disorders.

Conclusion

We present a case of a 30 year old Caucasian female with an absent septum pellucidum and gray matter heteropia who was diagnosed with schizoaffective disorder. Patients presenting with primary neurological conditions with secondary psychiatric disorders should be further investigated for possible midline brain malformations.

References

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Mobeen Farooq

Student, Marshall University Joan C. Edwards School of Medicine, Huntington, WV

Kelly Melvin, MD, MEd

Assistant Professor, Department of Psychiatry and Behavioral Medicine, Marshall University Joan C. Edwards School of Medicine, WV

Corresponding Author: Kelly Melvin, MD, MEd. Marshall University Joan C. Edwards School of Medicine, 1115 20th Street, Suite 205, Huntington, WV 25703. Email address: melvin3@marshall.edu.
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Title Annotation:Case Report
Author:Farooq, Mobeen; Melvin, Kelly
Publication:West Virginia Medical Journal
Article Type:Clinical report
Date:May 1, 2017
Words:2210
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