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A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30
A M Prieur1, C Griscelli, F Lampert
1INSERM-U. 132, Hôpital Necker-Enfants Malades, Paris, France.
Insights
This study describes a rare chronic inflammatory disease in children, characterized by neurological, skin, and joint issues. Eosinophilia is noted, but the exact cause remains unknown.
Area of Science:
- Pediatrics
- Inflammatory Diseases
- Genetics
Background:
- A chronic inflammatory disease presents in childhood with distinct clinical features.
- Early onset is typical, often presenting at birth or in early infancy.
Purpose of the Study:
- To detail the clinical presentation and disease course of this chronic inflammatory condition.
- To identify key symptoms, morphological features, and biological markers.
Main Methods:
- Clinical observation and data collection from 30 pediatric patients.
- Assessment of neurological, cutaneous, articular, and sensory organ involvement.
- Analysis of biological markers, including cerebrospinal fluid (CSF) and tissue eosinophils.
Main Results:
- All patients exhibited a triad of neurological, cutaneous (chronic urticaria-like rash), and articular (arthritis) symptoms.
- Progressive sensory organ involvement (ocular, auditory, laryngeal) and characteristic morphological features (short stature, head enlargement) were observed.
- Elevated eosinophils in blood, CSF, and tissues were a consistent finding, alongside signs of chronic inflammation; etiology remains unknown.
Conclusions:
- The disease is a distinct chronic inflammatory entity in childhood with multi-system involvement.
- While eosinophilia is a key biological marker, the etiology is currently unknown, warranting further investigation.
- The findings highlight the need for early diagnosis and management of this rare pediatric condition.
Abstract:
We have studied the clinical presentation and course of a chronic inflammatory disease occurring in childhood and observed in 30 patients. The first symptoms were generally present at birth, except in a few patients where they were first noticed in early infancy. All the patients had the association of three main symptoms: neurological, cutaneous and articular. The skin rash was the first symptom observed in all the patients and looked like a chronic non pruritic urticaria varying during the day. The articular manifestations involved knees, ankles and feet, elbows, wrists and hands unaffecting the other joints. They could be mild giving arthritis during flare-ups or severe with major radiological modifications affecting the epiphysis, metaphysis and growth cartilage. The neurological manifestations were characterized by a chronic meningitis and symptoms indicating meningeal irritation: headaches, seizures, spasticity of legs. Most patients had a cerebral atrophy and a low IQ. Sensory organ involvement occurred progressively during the follow-up: ocular inflammation with optic atrophy, deafness and hoarseness. Common morphological features characterized these patients with short stature, head enlargement, saddle back nose and short and thick extremities with clubbing of fingers. The course was that of a chronic inflammatory disease with numerous flare-ups associating fever, splenomegaly and adenomegaly. Except for a high level of eosinophils in blood, CSF and tissues, the biology was non specific and only exhibited features of inflammation. Except for two families, the disease was sporadic. A high frequency of prematurity with features resembling a foetal infection was observed but no proof of a possible causal virus has so far been found so that etiology remains unknown.