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Contrast-induced encephalopathy, a rare complication of coronary catheterization
Abstracts
neuron disease, namely amyotrophic lateral sclerosis. This case report describes a motor neurone disease with a slow evolution. Initially, a degenerative disease of the right shoulder tendon hampered the initial suspicion of a neurological disease. This work will be accompanied by pictures. The authors present a brief review of this disease entity and stress the importance of the diagnostic study in this case report. doi:10.1016/j.ejim.2013.08.687
ID: 825 Peripheral neuropathy—Report of a case of difficult diagnosis A.F. Rodriguesa, M. Mendonçab, A.S. Correiab, L. Alvesb
OF
a Internal Medicine, Hospital Caldas da Rainha, Caldas da Rainha, Portugal b Neurology, Hospital Egas Moniz, Lisboa, Portugal
Introduction: Peripheral neuropathy is common, often distressing, and sometimes disabling or even fatal. Differential diagnosis encompasses a large spectrum of diseases, from inflammatory auto-immune, to infectious or metabolic disorders. The authors hereby report the case of a 64 year old caucasian man, without previous known diseases, presented with bilateral lower limb paraesthesias followed by bilateral progressive leg weakness and difficulty in walking, within a three week's period, denying fever, pain or other symptom, aside from constipation. Neurological examination revealed absence of strength in both legs against gravity; arreflexia; extensor plantar reflexes and absence of vibratory or proprioceptive sensitivity in the lower extremities. Cerebrospinal fluid (CSF) showed albuminocytologic dissociation (elevated protein with normal white blood cell count in CSF) suggestive of Guillain–Barre Syndrome, and he was started on intravenous immunoglobulin G (IgG). Nevertheless differential diagnosis was pursued: immunological study, thyroid hormones, folic acid, Campylobacter jejuni, Mycobacterium, anti-neuronal antibodies, HIV, EBV, CMV, Hepatitis, HTLV, oligoclonal bands in CSF—negative/normal; vitamin B12—low; RPR and VDRL—positive. In light of these results, the patient started vitamin B12 replacement, maintained IgG therapy and a new lumbar puncture was performed—VDRL of CSF—positive. MRI imaging was suggestive with an inflammatory/infectious process—unspecific. He performed an electromyogram compatible with acute demyelinating disorder of the peripheral nervous system. After two days of therapy with IgG the patient referred maintenance of previous complaints, as well as paraestesias of the arms—showing arreflexia in the neurological examination. He started treatment with Penicillin for Neurosyphilis and physical therapy with partial recovery of lower limb strength. Conclusion: Although the most frequent scenario is the existence of a single cause/etiology, the pursuit for differential diagnosis is crucial for it is also possible to be in the presence of separate individual disorders, with different approaches in treatment, as well as in prognosis.
DP
Despite the risk of malnutrition, particularly in patients with multiple pathologies and risk factors, the nutritional status of hospitalized patients is not always assessed in the clinical practice. Malnutrition in hospitalized patients is often associated with higher costs, infections, mortality and prolonged hospital stay. Objective: To study and characterize the patients hospitalized at risk of malnutrition. Methods: Data was collected in a single day, through research of clinical processes of the patients hospitalized in the Department of Medicine (DoM). The authors evaluated the following data: age, gender, chronic bedridden (CB), enteral feeding by naso-gastric tube (EF), pressure ulcers (PU), chronic indwelling catheters (IC) and diagnosed heart failure (HF), chronic obstructive pulmonary disease (COPD), diabetes mellitus (DM), body mass index (BMI) and history of neoplasia. The risk of malnutrition was assessed by NRS scale. A score N2 is associated with risk of malnutrition. The collected data was treated in a statistical program. Results: We excluded 4 patients because of inappropriate records. Of the 89 included patients, 35 (39%) were at risk of malnutrition. In the group of patients at risk of malnutrition, 16 were female and the mean age was 76 years old. 11% of the patients were underweight, 54% have normal BMI, 20% were overweight and 14% were obese. Of the evaluated factors, the ones that showed to be most often implicated in the risk of malnutrition were HF (51%), DM (34%), CB (34%), IC (29%) and EF (29%). Conclusions: The risk of malnutrition in hospitalized patients is often overlooked and undervalued, despite its high prevalence. It is important to understand the relationship of the risk of malnutrition with some of the most frequent pathologies in patients hospitalized at the DoM. Although BMI is a useful tool in the clinical assessment, it should not be used alone.
RO
e266
TE
doi:10.1016/j.ejim.2013.08.686
ID: 822 Motor neuron disease, difficulty in reaching the diagnosis G. Ferrão, A. Palricas, D. Matias, G. Amaro, M. Grego, L. Siopa
EC
Internal Medicine, Santarém Hospital, Santarém, Portugal
UN
CO
RR
Amyotrophic lateral sclerosis (ALS), a neurodegenerative condition of the central nervous system, is the most common cause of motor neuron disease. Currently there is no cure, and it usually has a progressive course and is fatal. The presentation is variable depending on the motor neurons that are more involved, whether the upper or lower. Initial symptoms are muscular weakness, loss of muscle mass, generalized fasciculations, and in later stages, dysphagia, dysarthria, and signs of respiratory failure. Case report: The patient is 67 years old, male, with personal history of hyperuricemia, dyslipidemia and hypertension. He has initial clinical difficulty in raising the right shoulder, progressive decrease in muscle strength predominantly proximal, with a year of evolution. Initially he underwent a Magnetic Resonance Imaging (MRI) of the shoulder tendon that reported a rupture of supraspinatus stent placement. There was no clinical improvement after surgery, and gradually worsening neurological status was observed with decreased distal muscle strength in the right upper limb, decreased progressively proximal muscle strength in the left upper limb, dyspnea and intermittent moderate exertion. On physical examination, he had paresis of the upper limbs, generalized fasciculations, atrophy of the muscles between metacarpal bones, supraspinous and interspike muscles. Analytically only elevated creatinine kinase (425 U/L) stood out, and an immunological study of muscle diseases and tumor markers came out negative. During the diagnostic study he underwent cranial brain MRI, computed tomography thoracoabdominal-pelvic, respiratory function tests and echocardiogram that were unchanged; cervical MRI with signs of degenerative osteopathy pathology. Finally, an electromyogram of the upper and lower limbs showed signs of commitment neurógeno diffuse compatible with motor
doi:10.1016/j.ejim.2013.08.688
ID: 833 Contrast-induced encephalopathy, a rare complication of coronary catheterization L.M. Afonso, R.L. Caçola, H. Oliveira, A.S. Patrão, R. Silva, A. Alves, L. Guerreiro Medicine, Hospital Pedro Hispano — ULSM, Matosinhos, Portugal Background: Contrast-Induced Encephalopathy (CIE) is a rare situation characterized by development of neurological signs after
Abstracts
ID: 864 A lost crest syndrome S. Moura, C. Batouxas, C. Pereira, E. Pinelo, P. Vaz Internal Medicine Department, ULS do Nordeste—Unidade Hospitalar de Bragança, Bragança, Portugal
RO
OF
Objective: Description and characterization of a clinical case. Methods and results: Female patient of 58 years old, smoker. Followed in Psychiatry external consultation for depressive syndrome and in Gastroenterology external consultation apparently for gastroesophageal reflux diagnosed about six years. With a history of multiple surgeries to remove small calcified nodules interpreted as gouty tophi and with a history of venous insufficiency followed in Vascular Surgery. Eight days before anticoagulated by a history of superficial venous thrombosis. Requested cooperation of Internal Medicine for coagulation disorders in this context (International Normalized Ratio of 6). After careful anamnesis, symptoms consistent with Raynaud's phenomenon and not with venous insufficiency or superficial venous thrombosis were found and anticoagulation was suspended immediately. On examination, distal skin thickening, telangiectasia, digital ulceration with loss of digital pulp and various cutaneous nodules in the upper limbs compatible with calcinosis were found. Suggested diagnosis of CREST Syndrome. Thus oriented to autoimmune disease external consultation with complementary study supporting this diagnosis. Conclusion: Autoimmune diseases have a multisystemic character and a broad spectrum of severity making it difficult to diagnose. These diseases are transverse to a set of specialties benefiting from the cooperation between them and with a differentiated approach. Thus, the queries of autoimmune diseases have an essential role in these diseases.
DP
the administration of intravenous contrast. This condition has a wide spectrum of clinical presentation, ranging from focal cortical or subcortical neurological deficits, to confusional syndromes, seizures and coma. Findings in neuro-imaging may be present and may include localized cortical or sub-cortical enhancement, subarachnoid hyperdensity or cerebral edema. Methods: clinical case report and review of the published cases. Results: The authors present the case of a 61 year old man with known ischemic heart disease that was admitted to our hospital with an acute coronary syndrome. Early invasive approach was decided and the patient underwent coronary catheterization that showed severe coronary heart disease without indication for surgical or percutaneous revascularization. After the procedure the patient referred occipital pain, followed by confusion, disorientation and agitation, without apparent focal neurological deficits, without neck stiffness. A cerebral CT scan was performed, showing a hyper-dense signal, approximately 100 Houndsfield Units (HU), assumed to be compatible with cerebellum hemorrhagic collection with associated subarachnoid hemorrhage. The patient remained in vigilance for 24 h with no further degradation of the neurological status. The cerebral CT scan was repeated the next day, this time with no abnormal findings. The patient subsequently recovered his fully normal neurological status within 48 h after the event. The diagnosis of CIE was then considered. Conclusions: CIE has a good prognosis, with spontaneous resolution in few days. It is to be considered as a differential diagnosis in patients with acute neurological changes who have undergone angiography. Characteristic high density signals, 80 to 160 HU (when blood usually shows by 40 to 60 HU), is a distinguishable feature of CIE that may provide correct interpretation of a clinical picture, in order to avoid unnecessary treatments and procedures, and their associated risks.
e267
doi:10.1016/j.ejim.2013.08.689
TE
doi:10.1016/j.ejim.2013.08.691
ID: 884 Hereditary metabolic diseases — A report of 6 clinical cases E. Meira, C. Canha, E. Ferreira, F. Santos, L. Santos
EC
ID: 850 Implementing the national early warning score (news) for identification of deteriorating patients and measuring adherence to protocol A. Mukhal, J.M. Burns, R. Raj, G. Sandhu
RR
Ealing Hospital, General Medicine, Ealing Hospital NHS Trust, London, United Kingdom
UN
CO
Objectives: The National Early Warning Score (NEWS), as recommended by the Royal College of Physicians, was introduced in order to standardise the identification and assessment of deteriorating inpatients. The aim of this work was to determine if the NEWS system was being used effectively to identify these patients. Methods: An audit was performed looking specifically at patients who achieved a NEWS of at least 6. For these patients the accuracy with which observations were scored was assessed as well as the actions that were taken when these patients were identified, according to a locally agreed protocol. Results: The NEWS Score was correctly documented and scored in only 24% of patients. The majority of escalated cases were to the wrong member of the team, the junior doctor. The outcome of medical reviews failed to produce a clear management plan. Conclusions: The results of the initial audit indicated that not only was the NEWS poorly used but also escalation of these patients did not meet the gold standard. The findings were presented at a local clinical governance meeting and actions agreed before re-auditing.
doi:10.1016/j.ejim.2013.08.690
Internal Medicine, University Hospital Coimbra, Coimbra, Portugal Introduction: The diagnosis of hereditary metabolic diseases is mostly made in childhood, being necessary a lifetime follow-up, attending to all acute and chronic complications among these patients. Objective: A brief presentation of 6 clinical cases of hereditary metabolic diseases followed in internal medicine department: type Ia glycogenosis, maple syrup urine disease, homocystenuria and urea cycle disorder (ornithine transcarbamylase deficiency), highlighting the major complications of each disorder. Case reports: 2 male patients with type Ia glycogenosis, both 19 years old, where the major concerns are hypoglycemia, hyperlipidemia, hyperuricemia and hyperlactacidemia. In the long term may occur hepatic adenoma and hepatocellular carcinoma, renal failure, gout and platelet dysfunction. In patients with maple syrup urine disease, one female 19 years old and one male 20, the major acute complications are usually precipitated by infections, such as hypoglycemia, metabolic acidosis and hyperammonemia. Furthermore, may occur chronic complications like pancreatitis, cornea alterations eruptive dermatitis, which are related to a poor metabolic control. Regarding the female 18 year old patient with homocystenuria, the late complications are optic lens dislocation, osteoporosis, behavior disorders and thromboembolic events. At last, the 19 year old female patient with ornithine transcarbamylase disorder, the possible complications are hyperammonemia, behavior disorders and neurological dysfunction. The treatment consists ultimately in monitored dietary support and pharmacological treatment, and some patients may also need renal and/
neuron disease, namely amyotrophic lateral sclerosis. This case report describes a motor neurone disease with a slow evolution. Initially, a degenerative disease of the right shoulder tendon hampered the initial suspicion of a neurological disease. This work will be accompanied by pictures. The authors present a brief review of this disease entity and stress the importance of the diagnostic study in this case report. doi:10.1016/j.ejim.2013.08.687
ID: 825 Peripheral neuropathy—Report of a case of difficult diagnosis A.F. Rodriguesa, M. Mendonçab, A.S. Correiab, L. Alvesb
OF
a Internal Medicine, Hospital Caldas da Rainha, Caldas da Rainha, Portugal b Neurology, Hospital Egas Moniz, Lisboa, Portugal
Introduction: Peripheral neuropathy is common, often distressing, and sometimes disabling or even fatal. Differential diagnosis encompasses a large spectrum of diseases, from inflammatory auto-immune, to infectious or metabolic disorders. The authors hereby report the case of a 64 year old caucasian man, without previous known diseases, presented with bilateral lower limb paraesthesias followed by bilateral progressive leg weakness and difficulty in walking, within a three week's period, denying fever, pain or other symptom, aside from constipation. Neurological examination revealed absence of strength in both legs against gravity; arreflexia; extensor plantar reflexes and absence of vibratory or proprioceptive sensitivity in the lower extremities. Cerebrospinal fluid (CSF) showed albuminocytologic dissociation (elevated protein with normal white blood cell count in CSF) suggestive of Guillain–Barre Syndrome, and he was started on intravenous immunoglobulin G (IgG). Nevertheless differential diagnosis was pursued: immunological study, thyroid hormones, folic acid, Campylobacter jejuni, Mycobacterium, anti-neuronal antibodies, HIV, EBV, CMV, Hepatitis, HTLV, oligoclonal bands in CSF—negative/normal; vitamin B12—low; RPR and VDRL—positive. In light of these results, the patient started vitamin B12 replacement, maintained IgG therapy and a new lumbar puncture was performed—VDRL of CSF—positive. MRI imaging was suggestive with an inflammatory/infectious process—unspecific. He performed an electromyogram compatible with acute demyelinating disorder of the peripheral nervous system. After two days of therapy with IgG the patient referred maintenance of previous complaints, as well as paraestesias of the arms—showing arreflexia in the neurological examination. He started treatment with Penicillin for Neurosyphilis and physical therapy with partial recovery of lower limb strength. Conclusion: Although the most frequent scenario is the existence of a single cause/etiology, the pursuit for differential diagnosis is crucial for it is also possible to be in the presence of separate individual disorders, with different approaches in treatment, as well as in prognosis.
DP
Despite the risk of malnutrition, particularly in patients with multiple pathologies and risk factors, the nutritional status of hospitalized patients is not always assessed in the clinical practice. Malnutrition in hospitalized patients is often associated with higher costs, infections, mortality and prolonged hospital stay. Objective: To study and characterize the patients hospitalized at risk of malnutrition. Methods: Data was collected in a single day, through research of clinical processes of the patients hospitalized in the Department of Medicine (DoM). The authors evaluated the following data: age, gender, chronic bedridden (CB), enteral feeding by naso-gastric tube (EF), pressure ulcers (PU), chronic indwelling catheters (IC) and diagnosed heart failure (HF), chronic obstructive pulmonary disease (COPD), diabetes mellitus (DM), body mass index (BMI) and history of neoplasia. The risk of malnutrition was assessed by NRS scale. A score N2 is associated with risk of malnutrition. The collected data was treated in a statistical program. Results: We excluded 4 patients because of inappropriate records. Of the 89 included patients, 35 (39%) were at risk of malnutrition. In the group of patients at risk of malnutrition, 16 were female and the mean age was 76 years old. 11% of the patients were underweight, 54% have normal BMI, 20% were overweight and 14% were obese. Of the evaluated factors, the ones that showed to be most often implicated in the risk of malnutrition were HF (51%), DM (34%), CB (34%), IC (29%) and EF (29%). Conclusions: The risk of malnutrition in hospitalized patients is often overlooked and undervalued, despite its high prevalence. It is important to understand the relationship of the risk of malnutrition with some of the most frequent pathologies in patients hospitalized at the DoM. Although BMI is a useful tool in the clinical assessment, it should not be used alone.
RO
e266
TE
doi:10.1016/j.ejim.2013.08.686
ID: 822 Motor neuron disease, difficulty in reaching the diagnosis G. Ferrão, A. Palricas, D. Matias, G. Amaro, M. Grego, L. Siopa
EC
Internal Medicine, Santarém Hospital, Santarém, Portugal
UN
CO
RR
Amyotrophic lateral sclerosis (ALS), a neurodegenerative condition of the central nervous system, is the most common cause of motor neuron disease. Currently there is no cure, and it usually has a progressive course and is fatal. The presentation is variable depending on the motor neurons that are more involved, whether the upper or lower. Initial symptoms are muscular weakness, loss of muscle mass, generalized fasciculations, and in later stages, dysphagia, dysarthria, and signs of respiratory failure. Case report: The patient is 67 years old, male, with personal history of hyperuricemia, dyslipidemia and hypertension. He has initial clinical difficulty in raising the right shoulder, progressive decrease in muscle strength predominantly proximal, with a year of evolution. Initially he underwent a Magnetic Resonance Imaging (MRI) of the shoulder tendon that reported a rupture of supraspinatus stent placement. There was no clinical improvement after surgery, and gradually worsening neurological status was observed with decreased distal muscle strength in the right upper limb, decreased progressively proximal muscle strength in the left upper limb, dyspnea and intermittent moderate exertion. On physical examination, he had paresis of the upper limbs, generalized fasciculations, atrophy of the muscles between metacarpal bones, supraspinous and interspike muscles. Analytically only elevated creatinine kinase (425 U/L) stood out, and an immunological study of muscle diseases and tumor markers came out negative. During the diagnostic study he underwent cranial brain MRI, computed tomography thoracoabdominal-pelvic, respiratory function tests and echocardiogram that were unchanged; cervical MRI with signs of degenerative osteopathy pathology. Finally, an electromyogram of the upper and lower limbs showed signs of commitment neurógeno diffuse compatible with motor
doi:10.1016/j.ejim.2013.08.688
ID: 833 Contrast-induced encephalopathy, a rare complication of coronary catheterization L.M. Afonso, R.L. Caçola, H. Oliveira, A.S. Patrão, R. Silva, A. Alves, L. Guerreiro Medicine, Hospital Pedro Hispano — ULSM, Matosinhos, Portugal Background: Contrast-Induced Encephalopathy (CIE) is a rare situation characterized by development of neurological signs after
Abstracts
ID: 864 A lost crest syndrome S. Moura, C. Batouxas, C. Pereira, E. Pinelo, P. Vaz Internal Medicine Department, ULS do Nordeste—Unidade Hospitalar de Bragança, Bragança, Portugal
RO
OF
Objective: Description and characterization of a clinical case. Methods and results: Female patient of 58 years old, smoker. Followed in Psychiatry external consultation for depressive syndrome and in Gastroenterology external consultation apparently for gastroesophageal reflux diagnosed about six years. With a history of multiple surgeries to remove small calcified nodules interpreted as gouty tophi and with a history of venous insufficiency followed in Vascular Surgery. Eight days before anticoagulated by a history of superficial venous thrombosis. Requested cooperation of Internal Medicine for coagulation disorders in this context (International Normalized Ratio of 6). After careful anamnesis, symptoms consistent with Raynaud's phenomenon and not with venous insufficiency or superficial venous thrombosis were found and anticoagulation was suspended immediately. On examination, distal skin thickening, telangiectasia, digital ulceration with loss of digital pulp and various cutaneous nodules in the upper limbs compatible with calcinosis were found. Suggested diagnosis of CREST Syndrome. Thus oriented to autoimmune disease external consultation with complementary study supporting this diagnosis. Conclusion: Autoimmune diseases have a multisystemic character and a broad spectrum of severity making it difficult to diagnose. These diseases are transverse to a set of specialties benefiting from the cooperation between them and with a differentiated approach. Thus, the queries of autoimmune diseases have an essential role in these diseases.
DP
the administration of intravenous contrast. This condition has a wide spectrum of clinical presentation, ranging from focal cortical or subcortical neurological deficits, to confusional syndromes, seizures and coma. Findings in neuro-imaging may be present and may include localized cortical or sub-cortical enhancement, subarachnoid hyperdensity or cerebral edema. Methods: clinical case report and review of the published cases. Results: The authors present the case of a 61 year old man with known ischemic heart disease that was admitted to our hospital with an acute coronary syndrome. Early invasive approach was decided and the patient underwent coronary catheterization that showed severe coronary heart disease without indication for surgical or percutaneous revascularization. After the procedure the patient referred occipital pain, followed by confusion, disorientation and agitation, without apparent focal neurological deficits, without neck stiffness. A cerebral CT scan was performed, showing a hyper-dense signal, approximately 100 Houndsfield Units (HU), assumed to be compatible with cerebellum hemorrhagic collection with associated subarachnoid hemorrhage. The patient remained in vigilance for 24 h with no further degradation of the neurological status. The cerebral CT scan was repeated the next day, this time with no abnormal findings. The patient subsequently recovered his fully normal neurological status within 48 h after the event. The diagnosis of CIE was then considered. Conclusions: CIE has a good prognosis, with spontaneous resolution in few days. It is to be considered as a differential diagnosis in patients with acute neurological changes who have undergone angiography. Characteristic high density signals, 80 to 160 HU (when blood usually shows by 40 to 60 HU), is a distinguishable feature of CIE that may provide correct interpretation of a clinical picture, in order to avoid unnecessary treatments and procedures, and their associated risks.
e267
doi:10.1016/j.ejim.2013.08.689
TE
doi:10.1016/j.ejim.2013.08.691
ID: 884 Hereditary metabolic diseases — A report of 6 clinical cases E. Meira, C. Canha, E. Ferreira, F. Santos, L. Santos
EC
ID: 850 Implementing the national early warning score (news) for identification of deteriorating patients and measuring adherence to protocol A. Mukhal, J.M. Burns, R. Raj, G. Sandhu
RR
Ealing Hospital, General Medicine, Ealing Hospital NHS Trust, London, United Kingdom
UN
CO
Objectives: The National Early Warning Score (NEWS), as recommended by the Royal College of Physicians, was introduced in order to standardise the identification and assessment of deteriorating inpatients. The aim of this work was to determine if the NEWS system was being used effectively to identify these patients. Methods: An audit was performed looking specifically at patients who achieved a NEWS of at least 6. For these patients the accuracy with which observations were scored was assessed as well as the actions that were taken when these patients were identified, according to a locally agreed protocol. Results: The NEWS Score was correctly documented and scored in only 24% of patients. The majority of escalated cases were to the wrong member of the team, the junior doctor. The outcome of medical reviews failed to produce a clear management plan. Conclusions: The results of the initial audit indicated that not only was the NEWS poorly used but also escalation of these patients did not meet the gold standard. The findings were presented at a local clinical governance meeting and actions agreed before re-auditing.
doi:10.1016/j.ejim.2013.08.690
Internal Medicine, University Hospital Coimbra, Coimbra, Portugal Introduction: The diagnosis of hereditary metabolic diseases is mostly made in childhood, being necessary a lifetime follow-up, attending to all acute and chronic complications among these patients. Objective: A brief presentation of 6 clinical cases of hereditary metabolic diseases followed in internal medicine department: type Ia glycogenosis, maple syrup urine disease, homocystenuria and urea cycle disorder (ornithine transcarbamylase deficiency), highlighting the major complications of each disorder. Case reports: 2 male patients with type Ia glycogenosis, both 19 years old, where the major concerns are hypoglycemia, hyperlipidemia, hyperuricemia and hyperlactacidemia. In the long term may occur hepatic adenoma and hepatocellular carcinoma, renal failure, gout and platelet dysfunction. In patients with maple syrup urine disease, one female 19 years old and one male 20, the major acute complications are usually precipitated by infections, such as hypoglycemia, metabolic acidosis and hyperammonemia. Furthermore, may occur chronic complications like pancreatitis, cornea alterations eruptive dermatitis, which are related to a poor metabolic control. Regarding the female 18 year old patient with homocystenuria, the late complications are optic lens dislocation, osteoporosis, behavior disorders and thromboembolic events. At last, the 19 year old female patient with ornithine transcarbamylase disorder, the possible complications are hyperammonemia, behavior disorders and neurological dysfunction. The treatment consists ultimately in monitored dietary support and pharmacological treatment, and some patients may also need renal and/