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Letter to Editor
13 (
4
); 808-809
doi:
10.25259/JNRP-2022-3-43

A child with global developmental delay and excessive startles: Never overlook the family history

Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India
Corresponding author: Lokesh Saini, Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India. drlokeshsaini@gmail.com
Licence
This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.

How to cite this article: Krishna D, Choudhary S, Kumari J, Gunasekaran PK, Laxmi V, Tiwari S, et al. A child with global developmental delay and excessive startles: Never overlook the family history. J Neurosci Rural Pract 2022;13:808-9.

Dear Editor,

A 3-year-old boy, 2nd born to a non-consanguineously married couple, had a smooth perinatal transition presented with global delay and excessive startles. The child never attained neck holding, cannot sit with support or rollover, or hold things in hand. However, the child could respond to sound/light and vocalizes. He also had a history of intermittent twisting posturing in all four limbs. The child had microcephaly, normal hair, and short stubby fingers on examination. Visual fixation was present. The child had an excessive startle with loss of habituation. Fundus was normal. There was the variable tone and generalized dystonia. Family history gave us an important clue in the form of self-mutilation in a maternal cousin.

Investigations revealed normal neuroimaging and hyperuricemia (uric acid – 9 mg/dl). Diagnosis of Lesch-Nyhan syndrome (LNS) was established by genetic analysis, which revealed a pathogenic mutation in exon 7 of the hypoxanthineguanine phosphoribosyltransferase (HPRT1) gene.

LNS is a rare X-linked disorder caused by an inborn deficiency of HPRT enzyme.[1] It can have varied neurological abnormalities such as intellectual disability, involuntary movements, and predominantly choreoathetosis. Children with this condition also show unusual, compulsive, and aggressive behavior, which can be self-injurious with the resultant partial or total destruction of oral and perioral tissues and fingers, which remain the hallmark of this deadly disease.[2] However, these classical features were conspicuously absent in the index child.

Allopurinol has a role in reducing serum uric acid levels, thereby preventing gout and nephrolithiasis and symptomatic treatment for neurological manifestations to be given. Gabapentin has a beneficial role in treating self-mutilating behavior.[3] Dopamine replacement therapy and deep brain stimulation in globus pallidus are in the pipeline but still not proven.[4,5]

A high index of suspicion is required to diagnose rare entities like LNS. Detailed history, including family history and methodological examination, assists in arriving at an exact diagnosis in resource-limited settings. Neurometabolic syndrome may not present with classic symptoms; rather, the presentation may be misleading, like in our index case, the child presented with excessive startles. A detailed 3-degree pedigree chart does help in establishing the clinical diagnosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

  1. , , , . Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. N Engl J Med. 1965;273:130-5.
    [CrossRef] [PubMed] [Google Scholar]
  2. , , , , , , et al. Self-injurious behavior: Gene-brain-behavior relationships. Ment Retard Dev Disabil Res Rev. 2001;7:3-12.
    [CrossRef] [PubMed] [Google Scholar]
  3. , . Gabapentin for self-injurious behavior in Lesch-nyhan syndrome. Pediatr Neurol. 1999;20:381-2.
    [CrossRef] [PubMed] [Google Scholar]
  4. , , . Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report. J Neurosurg. 2003;98:414-6.
    [CrossRef] [PubMed] [Google Scholar]
  5. , , , , , , et al. Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Leschnyhan syndrome. Neurophysiol Clin. 2005;35:168-73.
    [CrossRef] [PubMed] [Google Scholar]

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