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Year : 2017  |  Volume : 1  |  Issue : 1  |  Page : 45-46

Psychosis as a presentation in h-syndrome

1 Consultant Psychiatrist, Bagalkot, Karnataka, India
2 Department of Psychiatry, Institute of Psychiatry and Human Behaviour, Bambolim, Goa, India

Date of Web Publication19-Jun-2017

Correspondence Address:
Ashish Srivastava
Institute of Psychiatry and Human Behaviour, Bambolim, Goa - 403 202
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aip.aip_2_17

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H-syndrome is an autosomal recessive disorder with characteristic features of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and low height. The manifestations of the syndrome are seen usually in the childhood, and most of the components of the syndrome are evident by adolescence. Till date, there is no mention in the literature of psychosis as a part of syndrome nor as a comorbidity. Here is a case report of H-syndrome diagnosed patient presenting with psychosis. Whether psychosis is a part of the syndrome or comorbid is not clear and hence to be observed in future.

Keywords: H-syndrome, hallucination, hyperprolactinemia, psychosis

How to cite this article:
Patil V, Srivastava A. Psychosis as a presentation in h-syndrome. Ann Indian Psychiatry 2017;1:45-6

How to cite this URL:
Patil V, Srivastava A. Psychosis as a presentation in h-syndrome. Ann Indian Psychiatry [serial online] 2017 [cited 2023 Feb 7];1:45-6. Available from: https://www.anip.co.in/text.asp?2017/1/1/45/208339

  Introduction Top

The H-syndrome is autosomal recessive genodermatosis with systemic manifestations caused by mutations in the nucleoside transporter human equilibrative nucleoside transporter-3.[1],[2] The term H-syndrome refers to the major clinical and laboratory findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally hyperglycemia.[3] The manifestations of the syndrome are seen usually in the childhood, and most of the components of the syndrome are evident by adolescence. Some cases are recently reported in Arab patient families from a small region near Jerusalem. In addition, there are few other reports from other parts of the world [4],[5],[6],[7] and very few similar cases from India.[8],[9]

Clinically, in addition to above features, patients may have scrotal masses, endocrinopathy (short stature, gynecomastia), exophthalmos with normal thyroid function, camptodactyly, hallux valgus and fixed flexion contractures of the toe and hand joints. More prominent changes in female patients were reported from the above population. Another unique feature noted in some of these patients was red cell aplasia.[3]

To date, there has been no case report of psychosis in H-syndrome, either as feature of syndrome or as a comorbid condition. Here, we are reporting a case of H-syndrome who presented to us with psychosis. It remains to be clarified whether it is an additional feature of above syndrome or a comorbid diagnosis.

  Case Report Top

Mr. A, 27-year-old unemployed single male from rural residence, was referred to our psychiatric tertiary care unit from general medicine department. He was referred to us with the complaints of hearing of voices when alone, muttering to self, fearfulness, insomnia, and ideas of self-harm.

On evaluation, it was elicited that he was born of a full-term normal delivery, with no significant family history of psychiatric or medical illness, had delayed milestones and poor scholastic performance. He was diagnosed to have H-syndrome with features of hearing loss, hepatosplenomegaly, heart anomalies, hypogonadism, and diabetes mellitus for last 10 years and has been on insulin treatment. He also had features such as dysmorphic facies with frontal bossing, low-set ears, depressed nasal bridge, and transverse eyelids, short stature, hallux valgus with fixed flexion contractures of the toe joints, and fixed flexion contractures of the hands' proximal interphalangeal joints along with small genitals and poor secondary sexual characteristics. He also had a history of repeated rhinosinusitis and on examination had enlarged submandibular lymph nodes.

On mental status examination, he had hallucinatory behavior, visceral and tactile hallucinations, second person auditory hallucination, persecutory ideas, irritable mood, expressing death wishes, impaired judgment, and lacking insight. There was no history of head injury or convulsion. There were no features suggestive of depression and/or anxiety disorder. There was no substance use elicited in him. No family history of any psychiatric illness or similar clinical features suggestive of H-syndrome.

His investigations showed normal hemogram picture (hemoglobin 13.7%, total leukocyte count 8000/cumm, neutrophil 68%, lymphocyte 19%, monocyte 6%, eosinophil 7%, and platelets 2.9 Lakh/cumm), normal renal parameters (blood urea 18 mg/dl, serum creatinine 0.7 mg/dl, sodium 136, potassium 3.8, chloride 101), normal liver function test (total bilirubin 0.8, protein 7.8 mg/dl, serum glutamic oxaloacetic transaminase 15 IU/l, and serum glutamic pyruvic transaminase 18 IU/L), normal lipid profile (serum cholesterol 112 mg/dl and serum triglyceride 67 mg/dl), and normal thyroid profile (T3 0.85 ng/ml, T4 7.77 μg/ml, thyroid-stimulating hormone 0.87 μIU/ml, free T3 2.07 pg/ml, and free T4 1.2 ng/ml). Hormonal assessment showed increased levels of follicle-stimulating hormone (55.20 mIU/ml), luteinizing hormone (28.98 mIU/ml), prolactin (24.57 ng/ml), and decreased testosterone level (219.65 ng/dl). He was a known case of diabetes with glycated hemoglobin levels of 9.5%. He had normal cytogenetic study (46XY). ECG showed sinus tachycardia with T-wave inversion in III and aVF and moderate degree of aortic regurgitation on echocardiography. His abdominal ultrasound was normal, and scrotal ultrasound showed right epididymal cyst (8 mm × 6 mm). Neuroimaging of brain was normal.

During his hospital course, he was started on oral antipsychotic tablet aripiprazole, titrated up to 15 mg at night with which the above psychotic symptoms resolved over a period of 10 days. On discharge, he had no psychotic features. He was asked to follow up after a week for assessment of intelligence. However, the patient did not come and was lost to follow-up.

  Discussion Top

As per the literature, there are no case reports of psychosis neither as feature in H-syndrome nor as a comorbid disorder. However, there is a study reporting of hyperprolactinemia leading to hypogonadism and subsequent first episode psychosis with interesting but complicated relationship of the same.[10]

Looking into our patient, it is difficult to say that hyperprolactinemia has caused hypogonadism because persons with above syndrome have primary hypogonadism and hyperprolactinemia causing psychosis is not clear. Physiological role of prolactin is to decrease dopamine; thus, hyperprolactinemia is unlikely to develop psychosis as per the dopamine hypothesis theory for psychosis. Going by the current available understanding of the onset of psychosis, the presence of psychosis in H-syndrome is unexplainable. The onset of psychosis is common in this age group with paranoid features but the progression of symptoms was atypical with rapid amelioration of symptoms in 2-3 days with low dose antipsychotic medication. Which is again not a classical response of any schizophrenic psychosis. Since no other features could explain the possible association/causation of psychosis in this case, makes it more likely to be one of the presenting signs of H-syndrome.

  Conclusion Top

In the absence of clear evidence of casual association between hyperprolactinemia or other possible cause for psychosis, it can be said that psychotic features as one of the rare features of H-syndrome. Thus, concluding, it can be said that psychosis can be one of the manifestations of syndrome and should be aware of the possibility when treating the patients with H-syndrome.

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Conflicts of interest

There are no conflicts of interest.

  References Top

El-Khateeb EA. The H syndrome. Pediatr Dermatol 2010;27:65-8.  Back to cited text no. 1
Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 2008;83:529-34.  Back to cited text no. 2
Molho-Pessach V, Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, et al. The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 2008;59:79-85.  Back to cited text no. 3
Hamadah IR, Banka N. Autosomal recessive plasma cell panniculitis with morphea-like clinical manifestation. J Am Acad Dermatol 2006;54 5 Suppl:S189-91.  Back to cited text no. 4
Marina S, Broshtilova V. POEMS in childhood. Pediatr Dermatol 2006;23:145-8.  Back to cited text no. 5
Prendiville J, Rogers M, Kan A, de Castro F, Wong M, Junker A, et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: Manifestations of a unique genetic disorder? Pediatr Dermatol 2007;24:101-7.  Back to cited text no. 6
Molho-Pessach V, Ramot Y, Camille F, Doviner V, Babay S, Luis SJ, et al. H syndrome: The first 79 patients. J Am Acad Dermatol 2014;70:80-8.  Back to cited text no. 7
Mehta S, Mastakar V, Mittal A, Khare AK, Gupta LK. The H syndrome. Indian J Paediatr Dermatol 2015;16:102-4.  Back to cited text no. 8
  [Full text]  
Molho-Pessach V, Varma M, Godbole K, Kamath N, Zlotogorski A. H syndrome – Four new patients from India. Indian J Dermatol Venereol Leprol 2014;80:579.  Back to cited text no. 9
[PUBMED]  [Full text]  
Tsigkaropoulou E, Peppa M, Zompola C, Rizos E, Xelioti I, Chatziioannou S, et al. Hypogonadism due to hyperprolactinemia and subsequent first episode of psychosis. Gend Med 2012;9:56-60.  Back to cited text no. 10


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