Carelli Francesco , Professor for Family Medicine, University  of Milan

Ioni Barbara  , Intern trainee FM , University of Milan

Censabella Federica, Intern trainee FM, University of Milan

Mesina Marina, neurologist, Milan

 

In daily family medicine practice we often meet complex, multifaceted  and unusual physical and  psychological manifestations, needing not only sophisticated technical instruments and diagnostic ability, but also communication and empathy skills,  so fundamental in family medicine.

A 48 years old patient, treated for hypertension with angiotensin II inhibitor and diuretic, came to our practice complaining of pain at skull- cervical level associated with pulsation, sweating, nausea and dizziness, exacerbated by cough and worsening during last months, with episodic dysphagia for liquids. 

Suspecting central nervous system disease and looking for better understanding of this clinical situation, so disturbing also psychologically for the patient in  his full working  life, we requested a Cerebral Magnetic Resonance Imaging.

MRI showed cerebellar tonsils descent through Foramen Magnum, suggesting diagnosis of Arnold – Chiari  Malformation  type I. 

The prospects of surgery as the only possible therapy, shocked and distraught the patient probably because of pre- concieved ideas and negative expectations, mainly because of  the  site of intervention (skull and its contents).

The opportunity to take time to explain the situation and  trust relationship established during the years with the patient, allowed to tackle step by step the absolute negativity to undergo surgery , even if delicate, and to push him to consult a very good centre of neurosurgery, where he was  admitted for intervention. 

No abnormalities at blood tests, and general objective examination and clinical history did not reveal any significant abnormalities allowed to plan an elective decompression surgery at atloido-occipital  junction in Arnold – Chiari Syndrome type I.

In operation theatre, after longitudinal incision from inion to VII cervical vertebra and muscles detachment, and exposure of occipital bone and posterior arch of C1 and C2, the patient was submitted to median sub-occipital craniectomy  with partial demolition of hypertrophic posterior arch of C1 and erosion of superior part of C2. At microscopy, after medial incision of the  pachymeninx, it was possible to see in the arachnoid the tonsils migrated  downward so far as C1.

For decompression,  a rhombus shaped dural plastic was sutured  and  fibrin glue and Surgicell were added. The  post-operative period was uneventful, without further neurological deficits, i.m.steroids for three days ( dexametason 4mg in the morning ) associated with anti-thrombosis drugs, proton pump inhibitors and NSAID on demand were prescribed. Due to reabsorbable  intradermal suture , no redressment was needed.  

At follow up visit at 45 days, symptoms were solved and a newly smiling man came back to family and working life, and visited our practice.

Because of   particularity of this case and because our early intervention revealed  to be fundamental  to relieve and solve patient’s disturbances, it could be useful to speak more about this rare malformation.  

Arnold – Chiari  Syndrome, so called in honor of Julius Arnold and Hans Chiari, the two  doctors who first  studied  it, is a rare pathology including an heterogeneous group  of structural anomalies  in posterior fossa ,with herniae through Foramen Magnum of parts of cerebellum and brainstem.  

Up to now there are not so precise data on prevalence and /or incidence of this disease; there is some familiarity, but not identified genetic components.  It has been classified into four different sub-groups, with differences in age of onset, ethiology and severity.

Arnold – Chiari malformation type I  is typical in young patients, characterized by one or both cerebellar tonsils herniated through Foramen Magnum. It is associated with syringomyelia  (20-85% cases)  or  more rarely with hydrocephalus. Usually asymptomatic, it can be discovered during examinations for other reasons. When symptomatic, there is headache and neck pain.  Other less frequent signs and symptoms are: tremors, ataxia, eye disturbances, nystagmus,  vertigo, dysphagia,  nocturnal apnoea, heart rate alterations.

Type II is characterized by hernia of cerebellar tonsils , vermis and bulb with IV ventricular  extension.   Cerebellar hemispheres are often asymmetrical and flattened.    This Type II is always associated with neural tube defects and in 80% of cases with hydrocephalus.  It  may also be asymptomatic,   but more frequently can be seen already in pediatric age with last cranial  nerves deficit, swallowing disturbances, laryngeal screeching because of vocal cords paralysis, cerebellar disturbances like opistothonus, nystagmus, ataxia , nocturnal apnoea.

Type III, the rarest one,  shows hernia of the whole cerebellum through Foramen Magnum.   It is evident at birth and carries bad prognosis and fast death.

Type IV is not compatible with life because of completely lacking encephalic structures development.

To diagnose Arnold – Chiari Syndrome  in suspect cases,   MRI  is the examination of choice, because it shows the presence and entity of brain structures dislocation. 

The only treatment is neurosurgical.  Neurosurgical intervention can enlarge posterior cranial fossa with sub-occipital decompression.    So, good relationship between patient and family doctor is fundamental to make early  diagnosis and bring the patient to neurosurgical intervention, that can eliminate all related symptoms, which are frequently so invalidating for these patients.

References

. Harrison, Principle of Internal Medicine  , McGraw-Hill, 16th Italian Edition 

Consulted web:

  . www.institutchiaribcn.com

  . www.aismac.org