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Table 2 Associated clinical findings (ACF) observed in 34 patients from our cohort

From: 47 patients with FLNA associated periventricular nodular heterotopia

 

n observed per group vs. total percentage

Cardiovascular

I

II

III

IV

Total (%)

Aortic valve insufficiency

1

4

 

3

8 (23.5)

Aortic dilation

1

   

1 (2.9)

Mitral valve insufficiency

   

1

1 (2.9)

Persistent ductus arteriosus

2

1

2

1

6 (17.6)

Cerebral aneurysm

1

 

1

 

2 (5.9)

Internal findings

Gastrointestinal dysfunction

1

  

1

2 (5.9)

Liability to hematoma

1

 

1

 

2 (5.9)

Obstructive lung disease

 

2

  

2 (5.9)

Dysmorphism/physical handicaps

Joint hypermobility

2

1

 

2

5 (14.7)

Musclular hypotonia

1

   

1 (2.9)

Talipes

   

1

1 (2.9)

Skin hyperextensible

1

1

  

2 (5.9)

Craniofacial dysmorphism

1

1

 

1

3 (8.8)

  1. Associated clinical findings (ACFs) were documented in 19 of the patients (55.9 %)
  2. However, in absolute numbers there were 12 ACFs in 4 patients in group I (average 3 per patient), 10 in 13 patients in group II (0.77/patient), 4 in 7 patients in group III (0.43/patient) and 10 in 10 patients in group IV (1,0/patient). The load of multiple different ACFs seems to be higher in younger patients. Patent ductus arteriosus Botalli (PDA) in 5 patients and cardiac valve disease in 8 patients were the most frequently observed ACFs, they showed no correlation to the patients’s age or neurological phenotype
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172