Colpocephaly in adulthood with neuropsychiatric presentation of status epilepticus and psychosis in emergency: A rare case report

INTRODUCTION

Colpocephaly is a very rare anatomical finding manifested by disproportionately enlarged occipital horns in comparison with other parts of the lateral ventricles. It was first identified by Benda in 1941, who described it as a vesiculocephaly.¹ Later, it was termed as colpocephaly by Yakovlev and Wadsworth in 1946. Typically, it is diagnosed in infancy due to associated intellectual disability, seizures, motor and visual abnormalities.^2,3 Globally, we could find only a few case reports of colpocephaly diagnosed in adulthood. It is often misdiagnosed with hydrocephalus.^4,5 It becomes important to differentiate between colpocephaly and hydrocephalus to avoid further complications and maintain better management. Table 1 shows the differentiating points between these two entities. Radiographically, colpocephaly can be identified by measuring the maximal width of the anterior and occipital horns of the lateral ventricles. Colpocephaly occurs from a wide range of congenital anomalies. Potential causes that have been found are chromosomal abnormalities, maternal toxin exposure, anoxic encephalopathy, and intrauterine infection.^3,5 Radiologically, colpocephaly is characterized by disproportionate dilation of the occipital horns and is commonly associated with full or partial agenesis of the corpus callosum.⁶

To the best of our knowledge, to date, there are very few case reports in the literature mentioning the neuropsychiatric manifestations in the form of psychosis in an adult with colpocephaly as an incidental finding. Previous studies are described in Table 1. While colpocephaly is exceptionally rare, this article may add to the literature on colpocephaly in adulthood.

CASE REPORT

A 19-year-old, 10^th-grade female belonging to a rural household presented to the emergency department with a 3-day history of altered sensorium, disorganized behaviour, poor oral intake, and recurrent episodes of urinary and fecal incontinence. Her glasgow coma scale (GCS) score was E3V2M4. On closer physical examination, she was having continuous twitching movement in the right thumb and on-and-off twitching of the right wrist with increased tone all over the right limb. She could not respond to questions or follow verbal commands. No abnormality in vitals was noted, with blood pressure being 130/80mmHg and pulse rate 90/minute. A provisional diagnosis of focal unaware seizure was made. The patient was treated with IV Lorazepam 2 mg, on which her twitching stopped, and a loading dose of sodium valproate was given through IV infusion at a dose of 20 mg/kg (Total: 1000mg). Basic investigation, including complete blood count, renal function test, blood sugar, thyroid function test, liver function test, and electrocardiogram, was within the standard limit. Electroencephalogram (EEG) showed bilateral abnormal electrical activity. A non contrast CT scan of brain was done showing prominent occipital horns [Figure 1]. History revealed no delayed developmental milestones, seizure disorders, or any other neuropsychiatric complaints during childhood.

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Figure 1:

Non-contrast CT brain of the patient showing enlarged occipital horns of lateral ventricles (indicated by arrow).

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After cessation of seizures post IV lorazepam and valproate infusion, the patient continued to demonstrate hallucinatory behavior, talking and smiling to self, on and off, complaining of someone standing near the bed when no one was, and appeared to be fearful of hospital staff and family members trying to run away, even after normalization of EEG. During this time, the patient was oriented to time, place, and person, and her mini–mental state examination (MMSE) score was 21, with a diagnosis of colpocephaly, epilepsy, and post-ictal. Psychosis was made. For these complaints, she was started on Olanzapine 10 mg, on which her psychotic symptoms gradually reduced. She was discharged after 5 days as she had no episode of seizure and her psychotic symptoms had reduced while on sodium valproate 750 mg and olanzapine 10 mg.

During follow-up, she continued to show improvement in psychotic symptoms and achieved complete remission in around 30 days. She can do all her personal and household chores well, but with some complaints of reduced memory and attention. Her current MMSE is 23 with deficits in attention, recall, and following complex commands. She has been free for the last 8 months. We intend to continue Olanzapine for the next 6 months by keeping the patient on regular follow-up.

DISCUSSION

This was a rare case of colpocephaly diagnosed during adulthood. Neuropsychiatric manifestations of colpocephaly usually occur during the early developmental period, with symptoms including intellectual disability, seizures, and motor deficits. This case gave an opportunity to further emphasize research for colpocephaly as a rare entity. Although patients with colpocephaly often present with neurological manifestations, a small proportion may remain asymptomatic.² Colpocephaly with associated callosal abnormalities presenting with psychiatric symptoms has been reported, as our patient has shown no abnormalities in the corpus callosum. Knowledge of such clinical presentation is needed to avoid unnecessary investigations and treatment delay. Sometimes it may be misdiagnosed as normal pressure hydrocephalus. To avoid unnecessary investigations and delays in treatment, it is important to understand the difference between these two conditions. Idiopathic normal pressure hydrocephalus is an adult-onset form of progressive ventriculomegaly, described as causing the clinical triad of disabling dementia, gait disturbance, and urinary incontinence. The diagnosis is made by at least two of the three features in the clinical trial: a normal cerebrospinal fluid pressure at lumbar puncture, and the presence of non-obstructive dilation of the ventricular system.^14,15 The developmental arrest of white matter formation during foetal development is believed to be the primary cause for the abnormal ventricular enlargement in colpocephaly^8. A stage of relative hydrocephalus occurs just before the fifth month of life; however, it is usually abolished by the migration of glial cells and growth of the surrounding white matter and corpus callosum.^16,17 Retained foetal ventricular configuration, defining colpocephaly, can occur if any intrauterine insult interferes with this maturation process. Colpocephaly can be assessed quantitatively. To calculate, the maximal width of the occipital horn is divided by the maximal width of the anterior horn of the lateral ventricle. Disproportionate enlargement of the occipital horns was defined as a P/A ratio ≥3 and is highly specific for colpocephaly and may be used as a diagnostic tool to distinguish colpocephaly from normal pressure hydrocephalus. Since its sensitivity is low, history and physical examination findings must be considered.^5,17 These differences are summarized in Table 2.

CONCLUSION

Colpocephaly is a rare congenital anomaly, and its incidental detection in adulthood is exceptional. While it is usually identified in infancy due to neurological deficits, our case highlights that it can remain asymptomatic until adulthood, when it may present with acute neuropsychiatric manifestations such as status epilepticus and psychosis. This underscores the importance of considering structural brain anomalies like colpocephaly in the differential diagnosis of acute neuropsychiatric presentations in young adults. Careful clinical evaluation combined with neuroimaging can prevent misdiagnosis, especially with conditions like normal pressure hydrocephalus, and guide appropriate management.

Awareness of colpocephaly as a potential underlying cause of late-onset seizures or psychiatric symptoms is crucial. Timely recognition through imaging not only prevents unnecessary interventions but also facilitates targeted treatment, improving both neurological and psychiatric outcomes in affected individuals.