A to Z of syndromes

A-Z of syndromes: Qazi Markouizos syndrome

A series about disorders and diseases with common symptoms that constitute syndromes

A series about disorders and diseases with common symptoms that constitute syndromes


Picture: Alamy

Qazi Markouizos syndrome is a rare disorder named after the paediatricians who first described the syndrome. The condition is characterised by hypotonia, seizures, delayed and dysharmonic skeletal maturation.

Dysharmonic skeletal maturation means that there is considerable inconsistency in the ossification and maturation of bones, mainly the bones of the hand despite reasonable overall physical growth and this has been reported as being fairly consistent between cases (Qazi et al 1994).

The syndrome can also cause constipation, in males the testicles are late to descend and in the children diagnosed there were complex learning differences. There may be some facial characteristics with widely spaced eyes and a long space between the root of the nose and the top lip (hypertelorism long philtrum) however these are quite subtle and less specific.

The syndrome is thought to be non-progressive and, although regarded as hereditary, the genetic inheritance is not known. 

Formal diagnosis

The fact that a child has a learning disability may be obvious to the parents and professionals even before a formal assessment has taken place. The formal diagnosis of learning disability is made by a multidisciplinary team of specialists who use standardised assessments tools which they have been trained to administer.

Additional treatment would depend on the symptoms experienced by affected children, careful bowel management, seizure control and as undescended testicles pose more risk of torsion surgery might be considered.

Example case study

Frederik was born spontaneously at less than 24 weeks gestation, weighing less than 600g and following resuscitation was subsequently admitted to the neonatal unit. In common with most extremely low birthweight infants he had thin skin which was gelatinous, red and shiny. His muscle tone was poor, and his testicles were undescended. His eyes were assessed as being widely apart, but were still fused so this was put down to a family trait. He was a first baby, his parents were unrelated and there was nothing remarkable in either family history.

His first few weeks of life were extremely unstable, involving the common complications of prematurity and it was uncertain if he would survive or not. However, as the weeks progressed to months he seemed to be holding more of his own. Concerns began to be expressed about the continuing hypotonic state of his limbs and unless nested he seemed to adopt a frog-like position.

He also had been difficult to establish on enteral feeds and necrotising enterocolitis had been suspected several times and Hirschsprung’s disease remained a possible diagnosis. He eventually became established on breast milk by nasogastric tube and a regimen of suppositories every second day.

At the time he should have been born his testicles were still undescended and his parents were informed that at some point he would need surgery (NHS Choices 2015). More worrying to the clinical team caring for him and his family were his seizures which seemed to be increasing.

Neonatal seizures can occur in up to 5% per 1,000 live births although exact causes can be difficult to identify (Weeke et al 2015) and Fredrick’s were becoming difficult to control. He was referred for an MRI scan (BAPM 2016) to assess the extent of the neurological damage which the clinical team felt was a consequence of his prematurity.

His parents were being presented with a guarded prognosis and the consultants were introducing the concept of him experiencing some degree of cerebral palsy, which can affect 14% of infants born before 27 weeks gestation. As time goes on it is probable that other characteristics of the syndrome develop but from a developmental perspective it will be impossible to apportion the difficulties he will experience to those caused as a result of his prematurity and those as a result of his syndrome.

 

References

Further reading


About the author

Doreen Crawford is a nurse adviser with consultancy Crawford McKenzie and consultant editor of Nursing Children and Young People

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