Stiff Baby Syndrome Diagnosis

June 02, 2021

The stiff baby syndrome or hyperexplexia is an unusual neurological disease, occurring via dominant autosomal transmission, anddistinguished byapermanenthypertonia that is heightened bythe slightest stimulus. This page is about babies with hypertonia.

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Involvement of the distal muscles is often more evident.

Stiff baby syndrome diagnosis. The recognition of the stiff baby syndrome is of great significance in order to avoid an erroneous diagnosis of epilepsy and consequent treatment with anticonvulsants. A genetic disorder also known as hyperexplexia in which babies have an exaggerated startle reflex (reaction). Stiff baby syndrome (hyperekplexia) is a rare genetic disorder.

Read this chapter of syndromes: With characteristic stiffening episode and exaggerated startle without habituation on tapping the nose we came to a clinical diagnosis of hyperekplexia or stiff baby syndrome or startle disease. Presenting soon after birth, it is often mistakenly diagnosed as spastic quadriparesis, epilepsy etc.

The recognition of this entity is important to avoid an erroneous diagnosis of epilepsy and consequent treatment with anticonvulsants. This condition, also called stiff baby syndrome, is when the baby stiffens her body, most notably, her legs and arms, particularly when being picked up. A genetic disorder also known as hyperekplexia in which babies have an exaggerated startle reflex (reaction).

But in a small number of cases, a stiff baby is a sign of a birth. Hereditary hyperekplexia, sporadic and inherited dystonia, hereditary spastic paraplegia and muscle rigidity in a newborn due to continuous peripheral nerve hyperactivity. A genetic disorder also known as hyperexplexia in which babies have an exaggerated startle reflex (reaction).

This disorder was not recognized until 1962 when it was described by drs. The clinical presentation of stiff baby syndrome is somewhat different. Rapid recognition and perioperative implications, 2e online now, exclusively on accesspediatrics.

Classic stiff person syndrome • stiff baby variant. Recognition is also important so that treatment with myorelaxants can be started to avoid the abnormal startle reactions that produce falls in older children. The disease hyperexplexia was first described in 1962 by kok and bruyn in 29 members of one family and occurred as a dominant autosomal transmission.

There are many causes for an infant to be stiff and most of them resolve over time. A definitive diagnosis could not be achieved. The stiff baby syndrome and its diagnostic distinction from epilepsy is reviewed from the service de neuronatologie, pavillon de la mere et l’enfant, nantes, france.

This disorder was not recognized until 1962 when it was described by drs. Sps is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Presenting soon after birth, it is often mistakenly diagnosed as spastic quadriparesis, epilepsy etc.

Neonatal hyperekplexia is a rare autosomal dominant startle disorder. It is also important to distinguish the stiff baby syndrome from other neurological diseases. Because of the clinical picture of a stiff baby and the low csf gaba, a defect of neurotransmission was postulated at that time, and the most favoured diagnosis was a genetic defect of glutamic acid decarboxylase (gad) leading to low gaba, gad antibodies being normal (hoffmann et al., 1994).

The diagnosis is a clinical one and is more easily made when other members of the family are affected. This disorder was not recognized until 1962 when it was described by drs. Babies and young children are less rigid between attacks.

Fargas berríos n, garcía i, garcía fragoso l, rivera gonzález j, montalvo ortiz j, vázquez correa m, valcárcel m.

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