P154 – 2946: Faltering weight, feeding difficulties, and rib fractures in a child with hyperekplexia due to GLRB mutation: A medical or a social problem?

Abstract

Objectives We describe a case of hyperekplexia due to GLRB mutation in whom child protection concerns had been raised due to faltering weight and rib fractures. Methods A male infant with a known diagnosis of hyperekplexia due to GLRB mutation had poorly controlled symptoms on clonazepam. Previously he had a number of spasms which caused him to drop his saturations and compromise his breathing. The Vigevano manoeuvre was required to terminate these spasms. The maneuver produced enough force to cause rib fractures. These concerns and poor feeding with inadequate weight gain together with a perceived parents' lack of engagement with the professionals prompted detailed child protection investigations, leading to the child being taken into foster care. A videofluroscopy performed for assessment of feeding difficulty revealed abnormalities in initiation of swallow, presence of oral residue following swallow and penetration into airway with risk of aspiration. This lead to a recommendation of a combination of nasogastric and oral feeds and the child gained weight adequately on this regimen. Results Hyperekplexia leads to oral hypersensitivity which can lead to abnormal swallowing and risk of aspiration. This in turn can set off a spasm requiring the Vigevano manoeuvre. Ultimately it can cause a child to have failure to thrive. This should not be confused with neglect. Conclusions Management of faltering weight in a child with hyperekplexia due to GLRB mutation presents specific challenges. While it is known that children with chronic health problems are at increased risk of abuse, it is also important to note that GLRB mutation leads to one of the more severe forms of hyperekplexia. We describe a case of hyperekplexia due to GLRB mutation in whom child protection concerns had been raised due to faltering weight and rib fractures. A male infant with a known diagnosis of hyperekplexia due to GLRB mutation had poorly controlled symptoms on clonazepam. Previously he had a number of spasms which caused him to drop his saturations and compromise his breathing. The Vigevano manoeuvre was required to terminate these spasms. The maneuver produced enough force to cause rib fractures. These concerns and poor feeding with inadequate weight gain together with a perceived parents' lack of engagement with the professionals prompted detailed child protection investigations, leading to the child being taken into foster care. A videofluroscopy performed for assessment of feeding difficulty revealed abnormalities in initiation of swallow, presence of oral residue following swallow and penetration into airway with risk of aspiration. This lead to a recommendation of a combination of nasogastric and oral feeds and the child gained weight adequately on this regimen. Hyperekplexia leads to oral hypersensitivity which can lead to abnormal swallowing and risk of aspiration. This in turn can set off a spasm requiring the Vigevano manoeuvre. Ultimately it can cause a child to have failure to thrive. This should not be confused with neglect. Management of faltering weight in a child with hyperekplexia due to GLRB mutation presents specific challenges. While it is known that children with chronic health problems are at increased risk of abuse, it is also important to note that GLRB mutation leads to one of the more severe forms of hyperekplexia.