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Pitt hopkins syndrome

Pitt hopkins syndrome

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Pitt-Hopkins syndrome

Abstract

Pitt-Hopkins syndrome is a rare genetic disorder that is always misdiagnosed due to

lack of its familiarity. The syndrome is associated with developmental delays, intellectual

disability and distinctive facial formations. It is characterized by recurrent seizures and those

suffering from the Pitt-Hopkins syndrome exhibit between moderate to severe intellectual

disability.

Patients suffering from the Pitt-Hopkins syndrome have been described to have a

prominent ears, beaked nasal bridge and “coarse” and up-slanted palpebral fissures.Previous

studies shows that individuals suffering from the Pitt-Hopkins syndrome have a uniform

developmental delay as well as intellectual disability. The diagnosis of the syndrome relies

on the patient’s detailed history. A lifelong and multidisciplinary approach is necessary in the

management of syndrome. This study focuses of reviewing literature of the Pitt-Hopkins

syndrome to establish its epidemiology, clinical manifestations, diagnosis and clinical

management.

Introduction

Pitt-Hopkins syndrome is a rare genetic disorder that is always misdiagnosed due to

lack of its familiarity. The syndrome is cause by a molecular variant of TCF4 which is critical

in the formation and differentiation of embryonic neuron. The syndrome is associated with

developmental delays, intellectual disability and distinctive facial formations. Besides, the

syndrome is characterized by recurrent seizures. Individuals suffering from the Pitt-Hopkins

syndrome exhibit between moderate to severe intellectual disability. This study focuses of

reviewing literature of the Pitt-Hopkins syndrome to establish its epidemiology, clinical

manifestations, diagnosis and clinical management.

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The syndrome was first discovered by neurologist Ian Hopkins and pediatricians David

Pitt in Melbourne. The two clinical scientists identified a condition encountered and

described two distinct conditions in children who were unrelated. The children exhibit severe

intellectual ability and had spells of rapid over-breathing while awake. This was followed by

holding of breath until cyanosis.Their examination showed that these children had similar

facial features, they had thick fleshy lips, and wide mouth and palate. Besides, they had

clubbing on their toes and fingers. These children were listed as part of an etiological survey

of 700 intellectually disabled people. Over a period of 28 years, only four instances of

sporadic patients had been identified. Since the first case of the syndrome was identified,

limited studies have been conducted owing to lack of familiarity with it.

Despite its existence for decades, the longitudinal data for the Pitt-Hopkins syndrome is

still lacking. Besides, there is no specific data on the prevalence of the syndrome. This is

informed by the small number of individuals affected and limited number of researchers

focusing on the syndrome. However, the families of the affected understands the syndrome

best since they are a continuous factor in the patients’ lives. A study conducted to establish

longitudinal data on the syndrome showed that out of the 139 families who participated, five

people identified retardation in the intra-uterine growth while other two noted limited intra-

uterine growth. Stidies have identified that the cases of Pitt-Hopkins syndrome are similar to

certain neurodevelopmental disorders such as Rett Syndrome, ATR-X syndrome and

Agelman Syndrome. Patients diagnosed with Angeline Syndrome exhibited mollecular

variant in TCF4.

Etiology

Pitt-Hopkins syndrome is cause by a de novo mutation of the TCF4 gene. The TCF4

gene plays a critical role in controlling the activity of other genes in specific regions of the

DNA. It issues instructions that results in the formation of a protein that binds to specific

areas of the DNA thus controlling the activity of other genes. TCF4 plays a role of a

transcription factor, It helps in the maturation of cells, cell destruction and cell differentiation.

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Pitt-Hopkins syndrome Abstract Pitt-Hopkins syndrome is a rare genetic disorder that is always misdiagnosed due to lack of its familiarity. The syndrome is associated with developmental delays, intellectual disability and distinctive facial formations. It is characterized by recurrent seizures and those suffering from the Pitt-Hopkins syndrome exhibit between moderate to severe intellectual disability. Patients suffering from the Pitt-Hopkins syndrome have been described to have a prominent ears, beaked nasal bridge and “coarse” and up-slanted palpebral fissures.Previous studies shows that individuals suffering from the Pitt-Hopkins syndrome have a uniform developmental delay as well as intellectual disability. The diagnosis of the syndrome relies on the patient’s detailed history. A lifelong and multidisciplinary approach is necessary in the management of syndrome. This study focuses of reviewing literature of the Pitt-Hopkins syndrome to establish its epidemiology, clinical manifestations, diagnosis and clinical management. Introduction Pitt-Hopkins syndrome is a rare genetic disorder that is always misdiagnosed due to lack of its familiarity. The syndrome is cause by a molecular variant of TCF4 which is critical in the formation and differentiation of embryonic neuron. The syndrome is associated with developmental delays, intellectual disability and distinctive facial formations. Besides, the syndrome is characterized by recurrent seizures. Individuals suffering from ...
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