Subacute encephalopathy with seizures in alcoholics (SESA) syndrome: Relevant questions.

OBJECTIVE: The aim of this article is to answer three relevant issues: i/What epileptic condition is referred to as subacute encephalopathy with seizures in alcoholics (SESA) syndrome; ii/ Why it can be important to distinguish SESA syndrome in clinical practice and iii/ What do we know about its pathophysiology. METHODS: We reviewed all cases published in the English language from the initial description of the syndrome to the present. All met the previously established criteria for SESA syndrome were included in our analysis. RESULTS: We found 34 patients diagnosed with SESA syndrome Fourteen (41.1%) out of 34 patients were over 60 years of age. In 12 (35.2 %), abstinence, and in 4 (11.7 %) excessive consumption of alcohol, were considered precipitating factors, respectively. Triggering causes were unknown in 18 cases (53.0 %). All cases (100 %) presented with altered mental status. Fourteen (41.1 %) subjects had a history of epileptic seizures in the context of alcohol withdrawal syndrome (AWS). Twenty (58.8 %) patients had focal motor seizures (FMSs), 24 (70.5 %) bilateral tonic-clonic seizures (BTCSs), and 15 (44.1 %) focal impaired awareness seizures (FIASs). In 8 (23.5 %), criteria for focal nonconvulsive status epilepticus (NCSE) were met. Twenty-eight (82.3 %) subjects had transient neurological deficits. In 29 (85.2 %) subjects, lateralized periodic discharges (LPDs) were observed on the EEG. Areas of signal hyperintensities and restricted diffusion in neuroimaging were mentioned in 22 subjects (64.7 %). Transfer to the intensive care unit was necessary in 8 (23.5 %) subjects. Thirteen (38.2 %) had recurrent episodes. Enduring brain damage was mentioned in 9 (26.4 %) cases. The most used anti-seizure medication (ASM) was levetiracetam, followed by phenytoin and lacosamide. CONCLUSIONS: SESA syndrome represents a well-defined subtype of focal NCSE in patients with chronic alcoholism. Its prompt recognition can facilitate the initiation of early ASM therapy and help design appropriate video-EEG evaluation and a treatment strategy.

Comparison of Continuous Intracortical and Scalp Electroencephalography in Comatose Patients with Acute Brain Injury.

BACKGROUND: Depth electroencephalography (dEEG) is a recent invasive monitoring technique used in patients with acute brain injury. This study aimed to describe in detail the clinical manifestations of nonconvulsive seizures (NCSzs) with and without a surface EEG correlate, analyze their long-standing effects, and provide data that contribute to understanding the significance of certain scalp EEG patterns observed in critically ill patients. METHODS: We prospectively enrolled a cohort of 33 adults with severe acute brain injury admitted to the neurological intensive care unit. All of them underwent multimodal invasive monitoring, including dEEG. All patients were scanned on a 3T magnetic resonance imaging scanner at 6 months after hospital discharge, and mesial temporal atrophy (MTA) was calculated using a visual scale. RESULTS: In 21 (65.6%) of 32 study participants, highly epileptiform intracortical patterns were observed. A total of 11 (34.3%) patients had electrographic or electroclinical seizures in the dEEG, of whom 8 had both spontaneous and stimulus-induced (SI) seizures, and 3 patients had only spontaneous intracortical seizures. An unequivocal ictal scalp correlate was observed in only 3 (27.2%) of the 11 study participants. SI-NCSzs occurred during nursing care, medical procedures, and family visits. Subtle clinical manifestations, such as restlessness, purposeless stereotyped movements of the upper limbs, ventilation disturbances, jerks, head movements, hyperextension posturing, chewing, and oroalimentary automatisms, occurred during intracortical electroclinical seizures. MTA was detected in 18 (81.8%) of the 22 patients. There were no statistically significant differences between patients with MTA with and without seizures or status epilepticus. CONCLUSIONS: Most NCSzs in critically ill comatose patients remain undetectable on scalp EEG. SI-NCSzs frequently occur during nursing care, medical procedures, and family visits. Semiology of NCSzs included ictal minor signs and subtle symptoms, such as breathing pattern changes manifested as patient-ventilator dyssynchrony.

Super-refractory nonconvulsive status epilepticus secondary to fat embolism: A clinical, electrophysiological, and pathological study.

BACKGROUND: Fat embolism syndrome (FES) is a rare complication of long-bone fractures and joint reconstruction surgery. To the best of our knowledge, we describe the clinical, electrophysiological, neuroimaging, and neuropathological features of the first case of super-refractory nonconvulsive status epilepticus (sr-NCSE) secondary to fat embolism. CLINICAL CASE: An 82-year-old woman was transferred to our intensive care unit because of a sudden decrease of consciousness level, right hemiparesis, and acute respiratory failure in the early postoperative period of knee prosthesis surgery. Brain computed tomography (TC) including angio-CT and CT perfusion was normal. An urgent video-electroencephalography (v-EEG) evaluation showed continuous sharp-and slow-wave at 2.0-2.5 Hz in keeping with the diagnosis of generalized NCSE. Epileptiform discharges ceased after the administration of 5mg of intravenous diazepam, and background activity constituted by diffuse theta waves was observed without clinical improvement. Treatment with levetiracetam (1000 mg/day) and sedation with propofol and midazolam were initiated. Moreover, continuous v-EEG monitoring was also started. Despite antiepileptic therapy, epileptiform activity recurred after the interruption of profound sedation, and valproate and lacosamide were added during the ensuing days. Magnetic resonance imaging (MRI) disclosed small scattered foci of acute ischemic infarcts and diffuse petechiae involving the basal ganglia and pons and centrum semiovale in keeping with fat embolism. Super-refractory nonconvulsive status epilepticus remained without control for 2 weeks. Finally, the patient died. The clinical autopsy revealed a bilateral lung fat embolism associated with a hemorrhagic infarction in the left lower lobe. Fatty lesions were also seen in the intestine and pancreas. Scattered microscopic cerebral infarcts associated with fat emboli in the capillaries were noticed, affecting both supra- and infratentorial structures. In addition, occasional focal areas of ischemic injury showing filiform neurons with reactive astrocytic gliosis background consistent with acute lesions were observed in CA3. CONCLUSIONS: Fat embolism should be considered a potential cause of sr-NCSE. This article is part of a Special Issue entitled "Status Epilepticus".

Subclinical focal seizures as a sign of progression in gliomas.

BACKGROUND: Subclinical seizures are ictal electrographic discharges lacking signs of clinical seizures, behavioural alteration or subjective symptoms. The diagnosis and detection of this type of non-convulsive seizures remain challenging, and information is scarce regarding this electroclinical picture in subjects with gliomas. The aim of this report is to describe two patients with gliomas who, after treatment with surgery and radiotherapy, exhibited subclinical seizures on video-EEG monitoring, as a manifestation of recurrence or progression of their brain tumour. METHODS: Case report and video-EEG monitoring analysis. RESULTS: Two patients with gliomas were admitted to our neurosurgical unit after a generalized tonic-clonic seizure. Brain MRI revealed a recurrence of their tumour. The use of video-EEG monitoring allowed the detection and characterization of subclinical seizures in both patients that otherwise would have gone undetected. In both cases, subclinical seizures arose from the frontal lobe and were not associated with motor manifestations or subjective symptoms. CONCLUSIONS: We emphasize that the existence of subclinical seizures in patients with gliomas is likely to be underestimated, and can occur in advanced progressive tumours. It is important to carry out continuous video-EEG monitoring in brain tumour patients who have had recent clinical seizures in order to be able to detect subclinical seizures and make appropriate diagnosis.

Subacute encephalopathy with seizures in alcoholics (SESA) syndrome.

PURPOSE: To describe four patients with subacute encephalopathy with seizures in alcoholics (SESA) syndrome and to review its clinical, electroencephalogram (EEG), neuroimaging and diagnostic criteria. METHODS: We conducted a retrospective analysis of a series of prospectively collected patients who met the previously established criteria for SESA syndrome. Subsequently, we reviewed all cases published in the English language from the initial description to the present. RESULTS: We found 34 patients diagnosed with SESA syndrome to date, including the four cases of SESA in this report. Fourteen out of 34 (41.1 %) patients were over 60 years of age. Twelve (35.2 %) were abstinent from alcohol and in 4 (11.7 %) there was excessive alcohol consumption. Triggering causes were unknown in 18 cases (53.0 %). All cases (100 %) presented with an altered mental status. Fourteen (41.1 %) subjects had a history of epileptic seizures in the context of acute withdrawal syndrome (AWS). Twenty (58.8 %) patients had focal motor seizures (FMSs), 24 (70.5 %) bilateral tonic-clonic seizures (BTCSs), and 15 (44.1 %) focal impaired awareness seizures (FIASs). In 8 (23.5 %), criteria for focal nonconvulsive status epilepticus (NCSE) were met. Twenty-eight (82.3 %) subjects had transient neurological deficits. In 29 (85.2 %) subjects, lateralized periodic discharges (LPDs) were observed in the EEG. Areas of increased T2/FLAIR signal and restricted diffusion were mentioned in 22 subjects (64.7 %). Transfer to the intensive care unit (ICU) was necessary in 8 (23.5 %) subjects. Thirteen (38.2 %) had recurrent episodes. Enduring cerebral sequelae had been mentioned in 9 (26.4 %) cases. The most used anti-seizure medication (ASM) was levetiracetam, followed by phenytoin and lacosamide. CONCLUSION: SESA syndrome represents a well-defined subtype of focal NCSE in patients with chronic alcoholism. Its prompt recognition can facilitate the initiation of early ASM therapy and help implement a video-EEG evaluation and neuroimaging strategy.

Usefulness of bilateral bispectral index (BIS) monitoring in a comatose patient with myoclonic status epilepticus secondary to cefepime.

BACKGROUND: Status epilepticus, particularly non-convulsive status epilepticus (NCSE), is a frequent complication in patients with altered renal function receiving treatment with intravenous cefepime. To the best of our knowledge, we report the first case, illustrated by video-EEG, of a critically ill patient receiving treatment with cefepime who developed an episode of confirmed symptomatic myoclonic status epilepticus (MSE). METHODS: Case report and video-EEG. RESULTS: A 60-year-old man, who had received a liver transplant due to alcoholic cirrhosis one year ago, was admitted to our intensive care unit due to septic shock. Computed tomography revealed a prostatic abscess as cause of his sepsis. On Day 27, a respiratory infection due to Pseudomona aeruginosa was diagnosed, and treatment with intravenous cefepime (2 g/8 hours) was initiated. On Day 32, his mental status deteriorated and he developed inattention, a reduced level of consciousness, and multifocal and generalised continuous myoclonic jerks. A video-EEG study was compatible with the diagnosis of symptomatic MSE. On Day 35, cefepime was stopped and general anaesthesia with midazolam was started in order to achieve a faster clinical improvement. We used the BIS-Vista™ monitor to guide general anaesthesia and detect potential episodes of NCSE. On Day 40, an EEG confirmed the existence of moderate diffuse encephalopathy. Finally, the patient died as a consequence of severe heart failure. CONCLUSIONS: Cefepime may be a cause of MSE in non-anoxic comatose patients. Clinicians should be aware of this possibility when evaluating comatose patients on cephalosporin therapy in order to establish a correct diagnostic approach and accurate prognosis. [Published with video sequences].

Ambulatory non-convulsive status epilepticus evolving into a malignant form.

We retrospectively analysed the clinical characteristics, electroencephalogram (EEG) records, brain magnetic resonance imaging (MRI) scans, antiepileptic therapy and prognosis of a case series with ambulatory non-convulsive status epilepticus (NCSE) which evolved into a malignant form (mNCSE). mNCSE was defined as NCSE that continues or recurs five days or more after the onset of general anaesthesia, including those cases where NCSE recurs upon reduction or withdrawal of anaesthetic therapy. Four women and two men were studied. The mean age was 42.8 years (range: 19-63 years). Two of six patients had a previous diagnosis of epilepsy. Four patients died. Two patients had a good outcome with return to consciousness and activities of daily life, and one of these subjects developed temporal lobe epilepsy. In four patients, the cause of mNCSE was encephalitis. Clinical presentation was complex partial status epilepticus (CPSE) in three patients and generalised NCSE (GNCSE) in the other three. Two of the latter had encephalitis and one was diagnosed with progressive myoclonus epilepsy (PME) of Lafora type. The mean duration of the NCSE episode was 47.5 days (range: 9-139 days; SD: 53.1). In three patients, continuous or rhythmic focal epileptiform discharges were the EEG pattern at onset. In the other three, continuous rhythmic generalised spike-wave, polyspike-wave or sharp slow-wave complexes were observed. Antiepileptic treatment was heterogeneous and patients were treated with an average of 6.0 AEDs (range: 3-10; SD: 3.0). In summary, mNCSE is a severe epileptic condition that occurs often in the context of encephalitis or pre-existing epilepsy. Both CPSE and GNCSE may occur. Although high mortality is associated with mNCSE, some patients may survive with normal or good recovery.

Bispectral index monitoring to detect delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage.

PURPOSE: Evaluate the bispectral index (BIS) monitoring to detect delayed cerebral ischemia (DCI) after aneurysmal subarachnoid hemorrhage (aSAH). MATERIALS AND METHODS: A single-center prospective study in patients with aSAH. BIS monitoring was recorded during 25-120 min in two periods, within the initial 72 h (BIS1) and between days 4 and 6 (BIS2) from admission. The median for each exported BIS parameter was analyzed. Transcranial Doppler (TCD) sonography was simultaneously performed with BIS1 (TCD1) and BIS2 (TCD2) monitoring. A multivariate logistic regression model was built to identify the variables associated with DCI. RESULTS: Sixty-four patients were included and 16 (25%) developed DCI. During BIS2 monitoring, significant differences were found in BIS value (left, p = 0.01; right, p = 0.009), 95% spectral edge frequency (left and right, p = 0.04), and total power (left and right, p = 0.04). In multivariable analysis, vasospasm on TCD2 (OR 42.8 [95% CI 3.1-573]; p = 0.005), a median BIS2 value <85 in one or both sides (OR 6.2 [95% CI 1.28-30]; p = 0.023), and age (OR 1.08 [95% CI 1.00-1.17]; p = 0.04) were associated with the development of DCI. CONCLUSIONS: BIS value is the most useful BIS parameter for detecting DCI after aSAH. Pending further validation, BIS monitoring might be even more accurate than TCD.

Typical absence status epilepticus in older people: syndromic delineation.

Objective We describe the clinical, electroencephalograph^ and neuroimaging findings of older patients with typical absence status epilepticus (ASE). Methods This investigation was a retrospective analysis of prospectively collected consecutive patients between January 2011 and October 2021. All patients ≥60 years with impairment of awareness and continuous generalized, rhythmic, synchronous and symmetric epileptiform discharges and normal background on video-electroencephalogram (vEEG) were included. Results Six patients were identified with a diagnosis of typical ASE. The mean age was 67 years. Five could be classified as idiopathic generalized epilepsy (IGE) though two had been erroneously categorized as cryptogenic focal epilepsy (FE). In one, the episode of ASE was thought to represent the beginning of late-onset IGE (de novo late-onset typical ASE). In all cases, ASE was controlled within the first 24 hours. Significance Typical ASE is a rare cause of confusion in the elderly population requiring urgent vEEG evaluation. It most frequently represents reactivation of a previous IGE, in effect related to patients with epilepsy with onset in childhood or adolescence, not previously diagnosed or treated, representing rather the debut of (de novo) late-onset IGE.

A prospective evaluation of phrenic nerve injury after lung transplantation: Incidence, risk factors, and analysis of the surgical procedure.

BACKGROUND: Phrenic nerve injury (PNI) is a complication of lung transplantation related to the surgical procedure and associated with increased morbidity. However, the incidence and risk factors, specifically regarding surgical techniques, have not been adequately studied. METHODS: We conducted a prospective single-center study over 4-years, in recipients of lung transplantation with a normal pretransplant phrenic nerve conduction study (PNCS). Diaphragm ultrasound and PNCS were performed in the first 21 postoperative days and PNI was defined when both tests were abnormal. Patients were followed up until hospital discharge. The association between transplant characteristics and PNI was analyzed by using logistic regression models. RESULTS: Two hundred eleven lung grafts implanted in 127 patients were included in the study. After lung transplantation, PNI was diagnosed in 43.3% of the subjects and 29% of the operated hemithorax. Regression logistic model showed that the variables related to PNI were female gender (p = 0.02), bilateral lung transplantation (BLT) (p = 0.001), right lung graft (p = 0.003), clamshell incision (p = 0.01), mediastinal adhesions (p = 0.002), longer operative time (p = 0.003), intraoperative extracorporeal support (p = 0.02), and blood transfusion (p = 0.003). Conversely, age >61 years (p = 0.008) and higher thoracic diameter (p = 0.04) were protective factors. The use of electrocautery, cardiac mechanical retractors, and diaphragmatic traction was not associated with PNI. Morbidity was increased without any difference in mortality. CONCLUSIONS: PNI is a frequent complication after lung transplantation, associated with higher morbidity. Mainly risk factors were age, BLT, female gender, and variables related to surgical difficulties. Lung graft in the right hemithorax and mediastinal adhesiolysis were the most relevant technical variables.

Triphasic Waves: Historical Overview of an Unresolved Mystery.

SUMMARY: Triphasic waves are a fascinating and mysterious EEG feature. We now have to accept that, at times, epileptiform discharges may have a blunted "triphasic morphology," and that there may be great difficulty in distinguishing between these often similar forms. The aim of this review was to describe the evolution in our understanding of triphasic waves that has occurred regarding the pathophysiology of triphasic waves, their most frequent causes, and the diagnostic difficulties involved in interpretation and differentiation from nonconvulsive status epilepticus.

Atypical or Typical Triphasic Waves-Is There a Difference? A Review.

SUMMARY: The entity of triphasic waves (TWs) and TW encephalopathy has derived from the subjective art of EEG interpretation. Indeed, there are few if any guidelines regarding many different aspects of TWs. The authors seek to shed light on the nature and the diagnostic characteristics of various types of TWs, differentiating "typical" from "atypical" forms. The authors conclude that morphologies in the form of bursts of well-formed, smoothly contoured, negative-positive-negative, bilateral, symmetrical and synchronous, regular, reactive, periodic or rhythmic, 1.5 to 2.0 Hz, fronto-central, triphasic complexes with fronto-occipital lag meet the criteria for typical TWs and are highly suggestive of toxic-metabolic encephalopathies. These are most frequently hepatic, uremic, or sepsis-associated encephalopathies with multi-organ failure. In such cases, atypical TWs (frontopolar or parieto-occipital maximum, negative-positive or negative-positive-negative, asymmetric and asynchronous, unreactive, irregular, multifocal, continuous with spatiotemporal evolution, sharper and without fronto-occipital/occipito-frontal lag, or triphasic delta waves) are rarely seen. Atypical TWs are encountered in Angelman syndrome, toxic encephalopathies, hyperthyroidism/hypothyroidism, Hashimoto encephalopathy, nonconvulsive status epilepticus, dementia, sepsis-associated encephalopathy, cerebrovascular disorders, and certain boundary syndromes. Investigations describing TWs with uncommon etiologies revealed few with typical TWs, suggesting that the term "TWs" has been overused in the past. Triphasic waves arise from the interaction of multiple factors including toxic, metabolic, infectious, and structural disorders that affect circuits between thalamus and cortex. The patient's metabolic status, presence of potentially neurotoxic drugs, cerebral atrophy, white matter disease, dementia, or seizures help differentiate typical from typical TWs. Future studies will determine whether this dichotomy is heuristically and clinically helpful.

Intracortical focal non-convulsive status epilepticus causing cerebral hypoxia and intracranial hypertension.

We describe the pathophysiological consequences and long-term neurological outcome of a patient with acute brain injury (ABI) in whom intracortical electroencephalography (iEEG) captured an episode of prolonged focal non-convulsive status epilepticus (NCSE) that remained undetectable on scalp electroencephalography. A 53-year-old right-handed woman was admitted to hospital due to a large frontal left intraparenchymal hematoma. Over two and a half days, we captured recurrent non-convulsive electrographic and electroclinical seizures compatible with the diagnosis of intracortical focal NCSE. The patient remained sedated and a burst-suppression pattern was obtained. We also performed invasive brain multimodality monitoring including iEEG and measurements of intracranial pressure (ICP), partial brain tissue oxygenation (PbtO2) and brain temperature. During non-convulsive electrographic and electroclinical seizures, the values of PbtO2 decreased and those of ICP increased. Six months later, brain MRI revealed encephalomalacia localized to the left paramedial fronto-basal region. The neuropsychological assessment carried out one year after the injury showed scores below average in verbal learning memory, motor dexterity and executive functions. In summary, iEEG is a feasible innovative invasive technique that may be used to record non-convulsive electrographic and electroclinical seizures which remain invisible on the surface. Intracortical focal NCSE causes metabolic changes such as reduced brain oxygenation and an increase in ICP that can further damage previously compromised brain tissue.

Stimulus-sensitive post-anoxic focal motor seizures evolving into generalised myoclonic status epilepticus: a video-EEG study.

We describe the case of a 62-year-old man who developed stimulus-induced focal motor seizures after prolonged cardiac arrest. During a video-EEG study, these focal motor seizures progressed into a generalised myoclonic status epilepticus. Both the severely decremented background activity on the EEG, and the absence of median and trigeminal somatosensory evoked potentials were in keeping with a devastating post-hypoxic encephalopathy and the patient died. Our clinical and electrophysiology data suggest that generalised myoclonic status epilepticus may occur in patients in whom the existence of severe cerebral damage prevents a complete development of all phases of classic generalised tonic-clonic seizures.

Lingual epilepsia partialis continua: a detailed video-EEG and neuroimaging study.

Motor epilepsia partialis continua (EPC) is a frequent and widely described variant of simple focal motor status epilepticus. However, lingual EPC is an unusual epileptic condition. We present a case of lingual EPC secondary to low-grade glioma in which the EEG and neuroimaging features were particularly remarkable. The video-EEG showed lateralized periodic discharges with superimposed rhythmic activity and frequent recurrent focal epileptic seizures. Moreover, brain magnetic resonance imaging showed a right temporo-insular cortico-subcortical lesion which was hyperintense on FLAIR, suggestive of low-grade glioma. In addition, diffusion-weighted imaging and arterial spin labelling series showed restricted diffusion in the right temporo-insular and parietal cortex and increased cerebral flow, respectively. All these findings are in keeping with changes related to persistent focal status epilepticus. Finally, we review the literature and discuss the differential diagnosis of this rare epileptic entity. [Published with video sequence].

Subacute Encephalopathy With Seizures in Alcoholics Syndrome: A Subtype of Nonconvulsive Status Epilepticus.

A recent assessment of the classification of nonconvulsive status epilepticus (NCSE) has incorporated the specific electroencephalographic (EEG) patterns on a syndromic basis. Such a clinical EEG syndromic approach may enable more accurate and expedited diagnosis of particular subtypes of NCSE so as to improve therapy. Herein, we review the characteristics of subacute encephalopathy with seizures in alcoholics syndrome, a subtype of focal NCSE occurring in chronic alcoholism with specific features, including encephalopathy, lateralized periodic discharges on the EEG, chronic microvascular ischemia on neuroimaging studies, and possible recurrence when chronic antiseizure treatment is stopped.

Tonic status epilepticus in a centenarian woman.

Generalized tonic status epilepticus (TSE) is a rare epileptic condition. It occurs usually in the context of symptomatic generalized epilepsy, in particular, in subjects with a diagnosis of Lennox-Gastaut syndrome, atypical forms of idiopathic (genetic) generalized epilepsy, or as a paradoxical effect during treatment with diverse antiepileptic drugs. Herein, we describe the case of an elderly woman on chronic treatment with psychotropic drugs who developed an episode of generalized TSE. Motor manifestations were subtle and difficult to recognize as seizures, and a detailed video-EEG importantly contributed to accurate and prompt diagnosis. TSE was initially refractory to conventional anti-seizure drug therapy including levetiracetam and valproate but was finally controlled with lacosamide. Our case indicates a potential therapeutic effect of lacosamide on TSE in the elderly after treatment failure with first-line anti-seizure drugs. [Published with video sequence on www.epilepticdisorders.com].

Epilepsia partialis continua and cortical motor control: insights into physiology.

Motor epilepsia partialis continua is a widely described variant of simple focal motor status epilepticus. However, few studies have addressed associated pathophysiological anomalies that may help us understand the cortical organization, basic functioning and control of voluntary movement. We describe the clinical, video-EEG and neuroimaging findings from two cases of motor epilepsia partialis continua that support the hypothesis of the coexistence of both classic body and complex motor map models in the cortical organization of voluntary movement in humans. [Published with video sequence].

Spinal muscular atrophy type I mimicking critical illness neuropathy in a paediatric intensive care neonate: electrophysiological features.

We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig-Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory-motor axonal neuropathy. Finally, a biopsy of quadriceps was compatible with the diagnosis of SMA type I. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene).