Neurol Sci DOI 10.1007/s10072-015-2106-4

LETTER TO THE EDITOR

Mills’ syndrome: progressive hemiplegia with atrophy of unilateral cerebral peduncle and pontine base Shang-Pei Wang • Fang-Cheng Xu Xian-Wen Chen



Received: 6 November 2014 / Accepted: 5 February 2015 Ó Springer-Verlag Italia 2015

Dear Sir, Mills’ syndrome, which was first described by Mills in 1900, is a rare clinical syndrome characterized by progressive ascending or descending hemiplegia without significant sensory involvement [1]. Although Mills suggested that this disorder was caused by primary degeneration of corticospinal tract unilaterally, secondary causes could not be eliminated for the early published cases due to lack of efficient investigation procedures, such as computed tomography (CT) and magnetic resonance imaging (MRI). The scarcity of reports in the following years after the advanced supplementary studies was available and lack of pathologic data raised doubt about the authenticity of this syndrome as a disease entity. In recent two decades, several additional cases of Mills’ syndrome without proof of secondary pathology have been reported [2–4], some authors proposed that Mills’ syndrome might be a variant type of primary lateral sclerosis (PLS). Here we describe a young Chinese male patient fulfilling the clinical features of Mills’ syndrome, with atrophy of contralateral cerebral peduncle and pontine base without any defined etiology. A 20-year-old male complained of weakness and stiffness on the left side of the body for about 3 years. The onset was weakness of the left upper extremity. The symptoms developed very slowly and did not catch thepatient’s attention until 6 months ago, when the weakness gradually spread to the left lower extremity, affecting walking slightly. He did not notice any muscle twitch. The

S.-P. Wang  F.-C. Xu  X.-W. Chen (&) Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei 230032, People’s Republic of China e-mail: [email protected]

right-sided limbs were normal. No altered cognitive function and perception, language and swallowing problems, sensory disturbance and sphincter dysfunction were noted. Family history of genetic disease was negative. There was no history of perinatal illness and his development was normal. Physical examination revealed left hemiparesis with hyperreflexia, spastic hypertonia and Babinski sign. Muscle power was graded 3/5 in the left upper limb, 4/5 in the left lower limb (medical research council). We noted a mild wasting without fasciculation in the left arm. Superficial and proprioceptive sensations were entirely normal. No facial asymmetry was noticed. Other cranial nerve functions were unimpaired. Routine laboratory test including vitamin B12 level, serological tests for syphilis and HIV and CSF examination were negative. EMG was performed with normal findings. Brain MRI showed isolated atrophy of the right cerebral peduncle and pontine base without any abnormal signals in hemispheres as well as calvarial bones (Fig. 1). We had proposed MRI Diffusion Tensor Imaging study upon assessment but was declined by the patient due to financial problems. MRI of cervical spine was normal. We made a follow-up evaluation of the patient 8 months after the initial observation, the clinical features remained unchanged, the EMG was basically normal as displayed in previous assessment. Cranial MRI was not performed on the follow-up. Our patient had left-sided slowly progressive spastic hemiplegia without sensory disturbance. No evidence of lower motor neuron involvement was observed in clinical manifestations and electrophysiological test. The diagnosis of Mills’ syndrome could be made. A remarkable finding on cranial MRI for our patient was unilateral atrophy on the right cerebral peduncle and pontine base, suggesting the degeneration of pyramidal tract, which was obviously related to the clinical manifestation.

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Neurol Sci Fig. 1 Axial T2WI MRI shows atrophy of right cerebral peduncle (a) and right pontine base (b)

The neuroimaging features raised the possibility of secondary Mills’ syndrome or craniocerebral hemiatrophy (socalled Dyke–Davidoff–Masson syndrome). It may be speculated that atrophy of unilateral cerebral peduncle might result from distal axonal degeneration of ipsilateral corticospinal or corticobulbar tracts due to structural impairment in hemispheres or spinal cords. However, there were no additional abnormalities in the cerebral hemisphere and spinal cord, and no signs of ipsilateral compensatory hypertrophy of the skull and sinuses except the finding mentioned above on MRI. Considering the clinical manifestations, disease history and findings of supplementary study, the atrophy of right-side pyramidal tract could not be attributed to secondary etiologies. The lack of evidence of secondary damage and the chronic progressive course of disease enable us to propose that the degeneration of pyramidal pathway might be idiopathic. Current view about Mills’ syndrome is that clinically diagnosed cases were complex disorders. Most are caused by structural damages, such as multiple sclerosis, vascular disease, inflammatory disorders and congenital anomalies of the cervical spine. Mills’ syndrome as a specific primary disorder is still controversial. In recent several decades, a few additional case reports about Mills’ syndrome were published [2–4]. As no significant structural abnormalities of brain have been identified by neuroimaging study in these cases, most authors suggested that this syndrome might be a hemiplegic form of PLS or predominant upper motor neuron amyotrophic lateral sclerosis (UMN-ALS) [2, 3]. It should be emphasized that most cases diagnosed as possible variant of PLS or UMN-ALS in the literature either had evidences of lower motor neuron involvement or symptoms or signs spreading to the contralateral side as the disease progressed [3], thus, these cases did not meet the criteria of Mills syndrome strictly. The two cases reported

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by Gastaut et al. [2] deserved a special attention. According to their report, both patients showed gradually progressive spastic hemiplegia without evidences of low motor neuron involvement, which were the typical features of Mills’ syndrome. What is more, all features were persistently unilateral after a lasting duration of more than 15 years. Although the authors proposed a diagnosis of PLS, these cases did not fulfill the current diagnostic criteria for PLS to the full extent. It is extremely rare for patients with PLS to remain unilaterally affected for such a long period. We consider the underlying pathological mechanism for patients as reported by Gastaut et al. may be different from the classic form of PLS, even if a diagnosis of variant PLS could be used nosologically. Our patient’s neuroimaging findings were distinct from Gastaut et al’s cases despite clinical features were similar. To our best knowledge, Mills’ syndrome with isolated unilateral cerebral peduncle and pontine base atrophy has not been reported so far. It was known that corticospinal tract hyperintensities and a T2WI-hypointense rim in the pre-central gyrus on conventional MRI can be detected in some patients with PLS or ALS [5], prominent atrophy of pyramidal tract was rare. Whether our patient is a variant of PLS or represents a unique upper motor neuron disease remains to be clarified. Conflict of interest of interest.

The authors declare that they have no conflict

References 1. Mills CK (1900) A case of unilateral progressive ascending paralysis probably presenting a new form of degenerative disease. J Nerv Ment Dis 27:195–200 2. Gastaut JL, Bartolomei F (1994) Mills’ syndrome: ascending (or descending) progressive hemiplegia: a hemiplegic form of primary lateral sclerosis? J Neurol Neurosurg Psychiatry 57:1280–1281

Neurol Sci 3. Rajabally YA, Hbahbih M, Abbott RJ (2005) Hemiplegic ALS: mills syndrome. Neurology 64:1984–1985 4. Rigamonti A, Lauria G, Prone V, Agostoni E (2013) Mills’ syndrome: an Italian case and revision of the literature. Neurol Sci 34:255–256

5. Hecht MJ, Fellner F, Fellner C, Hilz MJ, Neundorfer B et al (2002) Hyperintense and hypointense MRI signals of the precentral gyrus and corticospinal tract in ALS: a follow-up examination including FLAIR images. J Neurol Sci 199:59–65

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Mills' syndrome: progressive hemiplegia with atrophy of unilateral cerebral peduncle and pontine base.

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