Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Brief Communication
Brief Communication - Nursing
Case Report
Case Series
CEO message
Clinical Image
Editorial
Invited Review
Letter to Editor
Narrative Review
Original Article
Pictorial Essay
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Brief Communication
Brief Communication - Nursing
Case Report
Case Series
CEO message
Clinical Image
Editorial
Invited Review
Letter to Editor
Narrative Review
Original Article
Pictorial Essay
View/Download PDF

Translate this page into:

Clinical Image
1 (
2
); 109-110
doi:
10.25259/WJWCH_27_2022

A rare case of hypertonia in a neonate

Department of Neonatology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India
Corresponding author: Suma Sundararaju, Department of Neonatology, Bai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India. suma.sund@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: Hosalkar MM, Sundararaju S. A rare case of hypertonia in a neonate. Wadia J Women Child Health 2022;1(2):109-10.

A 24-day-old full-term female baby (birth weight: 3.6 kg), first by birth order and born to a non-consanguineously married couple, presented with the complaints of generalized stiffness of the entire body (increasing with stimulation) and trismus since day 10 of life. The baby was born through cesarean section with no significant antenatal or perinatal course. Mother received two doses of tetanus toxoid antenatally. Neurological examination suggested rigidity in all muscle groups with opisthotonic posturing [Figure 1], exaggerated startle response, and brisk deep tendon reflexes. The hypertonia responded dramatically to Vigevano’s maneuver, which is, forced flexion of head and legs toward the trunk [Figure 2].

Figure 1:: Opisthotonic posturing at admission.
Figure 2:: Vigevano maneuver.

Preliminary blood investigations, EEG, and MRI brain were all normal.

In view of the suggestive history, diagnosis of hyperekplexia was suspected and a trial of oral Clonazepam at 0.1 mg/kg was started with Baclofen, which decreased the tone and the startle response.[1]

Whole-exome sequencing for suspected hyperekplexia was sent which showed heterozygous missense variation in exon 6 of SLC6A5 gene suggestive of hyperekplexia-3 (HKPX3).[2] HKPX3 is caused by homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15 which can be of autosomal dominant or recessive inheritance. Affected individuals present with neonatal hypertonia, exaggerated startle response to tactile or acoustic stimuli and life-threatening apneic episodes. Being a genetic disorder, effects persists thorough out life albeit in less severity. Although the apnoeic episodes reduce over a period of time, the startle episodes persist and older children may still experience exaggerated startle, periods of rigidity, and recurrent seizures. Parents were counseled regarding the illness and the baby was discharged home on oral Clonazepam, Baclofen, and direct breastfeeding.

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. , , , . Neonatal hypertonia-a diagnostic challenge. Dev Med Child Neurol. 2015;57:600-10.
    [CrossRef] [PubMed] [Google Scholar]
  2. , . Hyperekplexia and other startle syndromes. J Neurol Sci. 2020;416:117051.
    [CrossRef] [PubMed] [Google Scholar]

Fulltext Views
59

PDF downloads
15
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections