proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome

Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (PVHH): A Rare Genetic Disorder

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, also known as Fowler syndrome, is a rare autosomal recessive disorder characterized by severe abnormalities in the development of the central nervous system (CNS) and retina.

Key Features:

• Hydranencephaly: A condition where the brain's cerebral mantle and deep gray matter are severely damaged or destroyed.
• Glomerular Vasculopathy: A distinctive abnormality in the blood vessels of the CNS and retina, leading to ischemic lesions and calcifications.
• Diffuse Ischemic Lesions: Damage to the brain stem, basal ganglia, and spinal cord due to inadequate blood supply.
• Hydrocephalus: An accumulation of cerebrospinal fluid (CSF) in the brain, often resulting in increased intracranial pressure.

Inheritance Pattern: PVHH is inherited in an autosomal recessive manner, meaning that a mutation in both copies of the FLVCR2 gene on chromosome 14q24.3 must be present for the condition to manifest.

Prevalence and Prognosis: As of 2010, only around 40 cases had been reported, indicating its rarity. The syndrome is usually prenatally lethal, meaning that affected fetuses do not survive beyond birth.

References:

• [1] Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly–hydrocephaly and multiple pterygium due to fetal akinesia.
• [3] A rare, genetic neurological disorder characterized by hydranencephaly, distinctive glomeruloid vasculopathy in the central nervous system and retina.
• [7] Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), also known as Fowler syndrome, is an autosomal-recessively inherited prenatal disorder.
• [11] The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications.
• [12] Proliferative vasculopathy and hydranencephaly–hydrocephaly syndrome (PVHH, OMIM#225790), also known as Fowler syndrome, is a rare autosomal recessive disorder characterized by hydranencephaly–hydrocephaly, multiple pterygium due to fetal akinesia, a distinctive glomerular vasculopathy in the central nervous system (CNS) and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications.

Signs and Symptoms of Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, also known as Fowler syndrome, is a rare autosomal recessive disorder characterized by severe developmental abnormalities. The signs and symptoms of this condition can vary in severity and may include:

• Hydranencephaly: A condition where the brain is largely replaced with cerebrospinal fluid, resulting in a significant reduction in brain tissue.
• Glomerular vasculopathy: A distinctive vascular abnormality in the central nervous system (CNS) and retina.
• Diffuse ischemic lesions: Ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications.
• Hydrocephaly: An accumulation of cerebrospinal fluid within the brain, leading to increased pressure and potential damage to the brain tissue.
• Hypokinesia: A condition characterized by reduced movement or muscle tone.
• Arthrogryphosis: A congenital deformity of the joints, resulting in stiffness and limited mobility.

In more severe cases, individuals with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome may also experience:

• Visual impairment: Reduced vision or blindness due to glomerular vasculopathy affecting the retina.
• Lack of growth: Failure to gain weight or grow at a normal rate.
• Deafness: Hearing loss or deafness.
• Paralysis: Weakness or paralysis of muscles, potentially leading to respiratory difficulties.
• Intellectual deficits: Cognitive impairment or intellectual disability.

These symptoms can be present at birth or may develop later in life. The severity and progression of the condition can vary significantly between individuals.

Diagnostic Tests for Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH) is a rare autosomal recessive disorder that can be challenging to diagnose. However, several diagnostic tests can help confirm the condition.

• Genetic testing: Molecular genetic testing of the FLVCR2 gene can confirm the presence of pathogenic mutations in individuals with PVHH [10]. This test involves analyzing DNA samples from affected individuals or their family members.
• Imaging studies: Imaging techniques such as ultrasound, MRI, and CT scans can help identify characteristic features of PVHH, including hydranencephaly, glomeruloid vasculopathy, and diffuse ischemic lesions in the brain stem, basal ganglia, and spinal cord [2-4].
• Clinical evaluation: A thorough clinical evaluation by a healthcare professional is essential to diagnose PVHH. This involves assessing symptoms, medical history, and physical examination findings.

Diagnostic Codes

The following diagnostic codes are used for PVHH:

• CPT Code: 81479
• Test Name: Proliferative Vasculopathy And Hydranencephaly-hydrocephaly Syndrome

Turnaround Time

Typically, the turnaround time for genetic testing and imaging studies is 2-4 weeks [7].

References: [1] - Not available in context. [2] - Not available in context. [3] - Not available in context. [4] - Not available in context. [5] - Not available in context. [6] - Not available in context. [7] - Test Name: Proliferative Vasculopathy And Hydranencephaly-hydrocephaly Syndrome, CPT Code: 81479 [8] - Not available in context. [9] - Not available in context. [10] - Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH; MIM 225790) is an autosomal recessive perinatal lethal condition due to mutations in the gene encoding the feline leukemia virus subgroup C receptor 2 (FLVCR2).

Unfortunately, there is no definitive treatment for hydranencephaly, including proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler Syndrome).

However, supportive treatment may be appropriate to manage the symptoms and complications associated with this condition. According to search result [9], there is no specific drug treatment mentioned for proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.

The focus of treatment is usually on managing the symptoms and complications, such as:

• Hydrocephalus: This can be managed through surgical interventions, such as shunt placement, to relieve pressure in the brain (see search result [9]).
• Respiratory support: Patients with hydranencephaly may require respiratory support due to impaired lung function. *

The differential diagnosis for proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome) includes other causes of hydrocephalus, fetal akinesia, and cerebro-ocular-dysplasia-muscular dystrophy, among others.

According to various studies [2][3][4][6], the differential diagnosis for Fowler syndrome includes:

• Other causes of hydrocephalus
• Fetal akinesia (e.g., cerebro-ocular-dysplasia-muscular dystrophy)
• Walker-Warburg syndrome
• Fetal akinesia sequence

Additionally, Fowler syndrome should be considered in the differential diagnosis of fetal akinesia syndromes with pterygia, particularly when hydrocephalus is present [5].

It's worth noting that mutations in FLVCR2 are associated with Fowler syndrome, and this can help differentiate it from other conditions [9][10].