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Waheeda Pagarkar
Suryakant Khopkar
Mukesh Agrawal
From the Department of Pediatrics, T.N.M.
College
and B.Y.L. Nair Ch Hospital, Mumbai 400 008,
India.
Reprint requests: Dr. Mukesh Agrawal, Professor of Pediatrics, T.N.M.C. and B.Y.L. Nair Ch. Hospital, Mumbai 400 008, India.
Manuscript Received: September 8, 1997; Initial review completed: October 6, 1997;
Revision Accepted: March 20, 1998
Stiffman syndrome (SMS) is a rare disorder characterised by progressive fluctuating muscular rigidity and paroxysmal painful spasms, which are usually precipitated by various physical stimuli but abolished
in sleep. Since the first description of this entity in 14 patients, many more
cases with characteristics or nearly similar findings have been reported(l,2), though rarely from India(3). Owing to its rarity, we present this case of Stiffman syndrome in a young child who responded well to diazepam therapy.
Case Report
A 7 -year-old boy presented with one month history of inability to open his
mouth, turn the head and bend forward, with intermittent symptom free periods.
He was also having difficulty while walking with frequent falls for last one
week. Initially, he had 1-2 attacks daily each lasting for half to one hour. Frequency and duration of attacks gradually increased to the extent that on admission patient was in a state of constant stiffness for more than two days. He had board like rigidity of almost all muscles, trismus, fixed facial expression with risus sardonicus and hyperextension of neck and back with lordotic gait (Fig. 1).
Speech was incoherent, though he was absolutely alert and conscious of surroundings. Any attempt to move, walk, talk or feed elicited a painful cry or a wince with arching of body and tetanic spasms of the limbs. Rigidity and spasms used to subside substantially during sleep. Apart from a slightly delayed motor development in infancy, past as well as family history were uneventful. He was fully immunized against tetanus with no history of injury. Neurological examination revealed no corticospinal signs except hypertonia. Planters were flexor. There was no respiratory involvement or any other significant findings on remaining examination.
A provisional diagnosis of tetanus with some atypical characteristics such as long symptoms free intervals and fully immunized status was made and sedation was started with intravenous diazepam along with other usual measures. Interestingly clinical improvement was almost immediate and within 24 hours, stiffness and spasms were completely gone. The patient remained asymptomatic for next one week and was then discharged with follow-up advise.
Six months later, the child was readmitted with complaints of one week duration, though the symptoms were less severe this time. Now he was fully investigated with normal hematological paremeters, serum CPK level-81 lU/L,
serum LDH-66 IU/L, SGOT-28 IU/L,SGPT-14 lU/L and normal electroencephalogram as
well as nerve conduction studies. Electromyography reveled presence of persistent motor activity in frontalis rhisorious muscle present even at rest. Response to procaine nerve block or myoneural block agents could not be tested due to non co-operation by the patient. Myotonia was excluded on EMG. Muscle biopsy showed non specific changes. In view of these
observations, the diagnosis
was revised to 'Stiffman syndrome'. Again the patient showed excellent response
to intravenous diazepam with complete recovery within 48 hours. Since then patient has been symptom free on follow-up of more than a year despite the discontinuation of diazepam therapy after some time.
Discussion
Diagnosis of SMS and its differentiation from other similar conditions with continuous muscle fiber activity, e.g., Issac syndrome(4) has always been a controversial issue. In a critical survey of cases of SMS reported till then, certain common observations were identified in a majority of subjects(2). Accordingly, this illness predominantly affects the male adult, who after a prodromal phase of episodic aching and tightness in axial musculature lasting for few weeks, develops symmetrical continuous stiffness of skeletal muscles spreading also to the limbs. The muscles become board like and rigid with patients adopting a typical lordotic gait and stiff legs giving appearance of 'Tin
soldiers'.
In addition, these patients also develop paroxysmal painful spasms precipitated by any sudden stimuli, e.g., movements, noise, talking, emotional upsets or swallowing. Presence of risus sardonicus, as seen in present case has also been reported earlier(5). Dysphagia, trismus, phonation defects, dysponea due to ventilatory restriction and spontaneous fractures secondary to spasms are rarely observed. During sleep, characteristically the spasms subside and muscles relax. In majority of these cases, there are no neurological abnormalities except the rigidity and secondary muscular atrophy. Intellectually, these patients are mostly normal.
Electromyography is a valuable aid in the diagnosis of SMS and is characterized by the state of continuous motor unit activity of normal configuration even at rest in
involved muscles, with normal action potentials. Abolition of the spasms as well as EMG abnormalities by anesthesia, motor nerve block or myoneural block is another consistent feature in these cases. Muscle biopsies were essentially normal or showed nonspecific changes in reported cases.
Use of diazepam in SMS with immediate functional improvement and electromyographic silence was described in three cases of
a series(6). A similar response has been noted by others(5). The present case showed near complete recovery within a day though EMG
abnormalities in some muscles persisted for some time. Other measures, e.g., baclofen,
sodium valporate, plasmapheresis and immunosupression
have only been partially successful(7,8).
The etiopathogenesis of SMS is not well established. Probably this illness represents persistent-neuron bombardment of the muscle due to dysequilibrium between GABA neural system with net inhibitory effects and a cholinergic neuronal system with net excitatory effect on neurons(8).
SMS in children has been rarely reported(8). However, in some cases with autosomal dominant inheritance, stiffness may be present at birth with apneic spells and exaggerated startle response. In them stiffness resolves gradually by three years of age, but may recur in late adolescence or early adult life in response to startle, cold
exposure or pregnancy.
SMS is to be differentiated from atypical tetanus, hysterical cramps, extrapyramidal lesions and cord compression on the basis of typical history, EMG abnormalities and response to diazepam. Issac syndrome, a dominantly inherited disorder of continuous motor activity, is the nearest differential diagnosis. However in Issac syndrome, continuous motor activity and muscle
spasms persist during the sleep, unlike in SMS. In addition, these patients also have frequent fasiculations and myokimias. Even with careful neurophysiological
studies, distinction between these two conditions sometimes may be very difficult(4).
Acknowledgment
The authors wish to thank our Dean, Dr. K.D. Nihalani for granting the permission to publish this case report.
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